The variation game: Cracking complex genetic disorders with NGS and omics data (Q30945159)

27 June 2017

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title

The variation game: Cracking complex genetic disorders with NGS and omics data (English)

1 reference

27 June 2017

Hongzhu Cui

1

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27 June 2017

Andi Dhroso

series ordinal

2

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27 June 2017

Nathan Johnson

series ordinal

3

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27 June 2017

Dmitry Korkin

series ordinal

4

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27 June 2017

publication date

2 May 2015

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27 June 2017

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27 June 2017

volume

79-80

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27 June 2017

page(s)

18-31

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Technology: The $1,000 genome

27 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Sequencing technologies - the next generation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Whole-genome re-sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Exome sequencing as a tool for Mendelian disease gene discovery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

RNA sequencing: advances, challenges and opportunities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Criteria for the use of omics-based predictors in clinical trials

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Using high-throughput transcriptomic data for prognosis: a critical overview and perspectives

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Genome-wide association studies: theoretical and practical concerns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Methodological deficits in diagnostic research using '-omics' technologies: evaluation of the QUADOMICS tool and quality of recently published studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

7 January 2021

Cancer statistics, 2014

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The increase of childhood chronic conditions in the United States

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Evolution in health and medicine Sackler colloquium: Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

How next-generation sequencing is transforming complex disease genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Sequencing studies in human genetics: design and interpretation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Copy number variations and human genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Pre-mRNA splicing in disease and therapeutics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetic modifications and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Next-generation genomics: an integrative approach

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Human genetic variation and its contribution to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The genetics of multiple sclerosis: SNPs to pathways to pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Autoimmune diseases: insights from genome-wide association studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The human disease network

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Pathway analysis of genomic data: concepts, methods, and prospects for future development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

An integrated map of genetic variation from 1,092 human genomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

dbSNP: the NCBI database of genetic variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Human Gene Mutation Database (HGMD): 2003 update

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

A survey of tools for variant analysis of next-generation genome sequencing data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Interpreting noncoding genetic variation in complex traits and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

CREB up-regulates long non-coding RNA, HULC expression through interaction with microRNA-372 in liver cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Using bioinformatics to predict the functional impact of SNVs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Amino acid substitution matrices from protein blocks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SIFT: Predicting amino acid changes that affect protein function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

A method and server for predicting damaging missense mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

UniProt Knowledgebase: a hub of integrated protein data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Determining effects of non-synonymous SNPs on protein-protein interactions using supervised and semi-supervised learning

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Network medicine: a network-based approach to human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Human diseases through the lens of network biology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Interactome networks and human disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Chapter 5: Network biology approach to complex diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Highly interconnected genes in disease-specific networks are enriched for disease-associated polymorphisms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Network-based methods for human disease gene prediction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Gene prioritization through genomic data fusion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Three-dimensional reconstruction of protein networks provides insight into human genetic disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Interactome3D: adding structural details to protein networks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Structural systems pharmacology: the role of 3D structures in next-generation drug development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Structural variation in the human genome and its role in disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Copy number variation in human health, disease, and evolution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Strong association of de novo copy number mutations with autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Functional impact of global rare copy number variation in autism spectrum disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

De Novo CNVs in Bipolar Disorder: Recurrent Themes or New Directions?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Somatic mosaicism for copy number variation in differentiated human tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The Human Genome Puzzle &#x2014; the Role of Copy Number Variation in Somatic Mosaicism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Systematic biases in DNA copy number originate from isolation procedures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Association between microdeletion and microduplication at 16p11.2 and autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The Genetic Effect of Copy Number Variations on the Risk of Type 2 Diabetes in a Korean Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Copy number variation in the human genome and its implications for cardiovascular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Integrated detection and population-genetic analysis of SNPs and copy number variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Population structure in copy number variation and SNPs in the CCL4L chemokine gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Refining analyses of copy number variation identifies specific genes associated with developmental delay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

CONAN: copy number variation analysis software for genome-wide association studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Comparative analysis of copy number variation detection methods and database construction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Origins and functional impact of copy number variation in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SCAN: SNP and copy number annotation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Challenges and standards in integrating surveys of structural variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Psoriasis is associated with increased beta-defensin genomic copy number

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Segmental copy number variation shapes tissue transcriptomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

CNV-WebStore: online CNV analysis, storage and interpretation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

CNVannotator: a comprehensive annotation server for copy number variation in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Accurate distinction of pathogenic from benign CNVs in mental retardation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Copy number variation influences gene expression and metabolic traits in mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Expansion of the eukaryotic proteome by alternative splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The evolutionary landscape of alternative splicing in vertebrate species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Complexity of the alternative splicing landscape in plants.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Alternative splicing and evolution: diversification, exon definition and function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Alternative isoform regulation in human tissue transcriptomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The spliceosome: design principles of a dynamic RNP machine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Genomics of alternative splicing: evolution, development and pathophysiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Landscape of transcription in human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Chromatin, transcript elongation and alternative splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Aberrant and alternative splicing in cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Environmental exposures and gene regulation in disease etiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetics in alternative pre-mRNA splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The alternative heart: impact of alternative splicing in heart disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

RNA sequencing of cancer reveals novel splicing alterations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Splice-mediated Variants of Proteins (SpliVaP) - data and characterization of changes in signatures among protein isoforms due to alternative splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The ENCODE (ENCyclopedia Of DNA Elements) Project

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

GENCODE: producing a reference annotation for ENCODE

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

DBATE: database of alternative transcripts expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SASD: the Synthetic Alternative Splicing Database for identifying novel isoform from proteomics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

IPAD: the Integrated Pathway Analysis Database for Systematic Enrichment Analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Transcriptomics: mRNA and alternative splicing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Transcriptomics in the RNA-seq era.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Detection and measurement of alternative splicing using splicing-sensitive microarrays.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

RNA-seq and microarray complement each other in transcriptome profiling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The concordance between RNA-seq and microarray data depends on chemical treatment and transcript abundance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Opportunities and methods for studying alternative splicing in cancer with RNA-Seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Computational methods for transcriptome annotation and quantification using RNA-seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

A comprehensive evaluation of alignment algorithms in the context of RNA-seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Systematic evaluation of spliced alignment programs for RNA-seq data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Statistical design and analysis of RNA sequencing data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Mapping and quantifying mammalian transcriptomes by RNA-Seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Isoform abundance inference provides a more accurate estimation of gene expression levels in RNA-seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Measurement of mRNA abundance using RNA-seq data: RPKM measure is inconsistent among samples

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Tissue-specific alternative splicing remodels protein-protein interaction networks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Alternative splicing of intrinsically disordered regions and rewiring of protein interactions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Tissue-specific splicing of disordered segments that embed binding motifs rewires protein interaction networks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetic epidemiology of common complex disease: prospects for prediction, prevention, and treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetic regulation in cancer progression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

DNA methylation patterns and epigenetic memory

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Mutation of a mutL homolog in hereditary colon cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Mutation in TET2 in myeloid cancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

A Study of Nuclear Transcription Factor-Kappa B in Childhood Autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Brain transcriptional and epigenetic associations with autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Advances in autism genetics: on the threshold of a new neurobiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Hippocampal neuron loss exceeds amyloid plaque load in a transgenic mouse model of Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Age-specific epigenetic drift in late-onset Alzheimer's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetic switch at atp2a2 and myh7 gene promoters in pressure overload-induced heart failure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Activation of hepatic stellate cells--a key issue in liver fibrosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Epigenetics in liver disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SIGMA2: a system for the integrative genomic multi-dimensional analysis of cancer genomes, epigenomes, and transcriptomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SIGMA: a system for integrative genomic microarray analysis of cancer genomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

VAMP: visualization and analysis of array-CGH, transcriptome and other molecular profiles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

MD-SeeGH: a platform for integrative analysis of multi-dimensional genomic data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Fast and accurate short read alignment with Burrows-Wheeler transform

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SSAHA: a fast search method for large DNA databases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Podbat: a novel genomic tool reveals Swr1-independent H2A.Z incorporation at gene coding sequences through epigenetic meta-analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Distinctive topology of age-associated epigenetic drift in the human interactome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Network-based analysis identifies epigenetic biomarkers of esophageal squamous cell carcinoma progression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Multi-analyte network markers for tumor prognosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Localization of gene for human p53 tumour antigen to band 17p13.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The first 30 years of p53: growing ever more complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Transcriptional and epigenetic regulation of the p53 tumor suppressor gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

p53 polymorphisms: cancer implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

p53-family proteins and their regulators: hubs and spokes in tumor suppression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains of 53BP2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

ASPP proteins specifically stimulate the apoptotic function of p53

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

MYC, FBXW7 and TP53 copy number variation and expression in gastric cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Number of rare germline CNVs and TP53 mutation types

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

p53 isoforms can regulate p53 transcriptional activity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Crystal Structure of a Multidomain Human p53 Tetramer Bound to the Natural CDKN1A (p21) p53-Response Element

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

DOMMINO: a database of macromolecular interactions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

LOVD v.2.0: the next generation in gene variant databases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Identifying a high fraction of the human genome to be under selective constraint using GERP .

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

SNAP: predict effect of non-synonymous polymorphisms on function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Accurate and reliable high-throughput detection of copy number variation in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The ASAP II database: analysis and comparative genomics of alternative splicing in 15 animal species

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

AS-ALPS: a database for analyzing the effects of alternative splicing on protein structure, interaction and network in human and mouse.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

TopHat: discovering splice junctions with RNA-Seq

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

De novo assembly and analysis of RNA-seq data.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

STAR: ultrafast universal RNA-seq aligner

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

DiffSplice: the genome-wide detection of differential splicing events with RNA-seq.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Genome-guided transcript assembly by integrative analysis of RNA sequence data.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

spliceR: an R package for classification of alternative splicing and prediction of coding potential from RNA-seq data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Full-length transcriptome assembly from RNA-Seq data without a reference genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Detection of splice junctions from paired-end RNA-seq data by SpliceMap.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

HIstome--a relational knowledgebase of human histone proteins and histone modifying enzymes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

MethylomeDB: a database of DNA methylation profiles of the brain.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

A reference methylome database and analysis pipeline to facilitate integrative and comparative epigenomics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Exploring long-range genome interactions using the WashU Epigenome Browser

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

NCBI Epigenomics: a new public resource for exploring epigenomic data sets

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

EpiExplorer: live exploration and global analysis of large epigenomic datasets

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Detecting differential peaks in ChIP-seq signals with ODIN.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

MOABS: model based analysis of bisulfite sequencing data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

Whole-genome haplotyping using long reads and statistical methods

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/J.YMETH.2015.04.018

10.1016/J.YMETH.2015.04.018

7 January 2021

Identifiers

DOI

1 reference

27 June 2017

1 reference