Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing (Q26785773)

5

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Katherine R Bull

3

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Paul K Potter

7

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Saumya Kumar

object named as

Saumya Kumar

4

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author name string

Michelle M Simon

1

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Eva Marie Y Moresco

Creative Commons Attribution 4.0 International

2

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language of work or name

English

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publication date

October 2015

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1 October 2015

5 references

20 June 2019

30 June 2019

14 September 2019

19 September 2019

6 November 2020

15

1 reference

based on heuristic

inferred from page(s)

5 references

20 June 2019

30 June 2019

14 September 2019

19 September 2019

6 November 2020

26

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issue

9-10

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page(s)

486-500

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copyright license

5 references

20 June 2019

30 June 2019

14 September 2019

19 September 2019

6 November 2020

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The case for junk DNA

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Is junk DNA bunk? A critique of ENCODE

7 April 2017

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What does our genome encode?

7 April 2017

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An integrated encyclopedia of DNA elements in the human genome

7 April 2017

1 reference

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A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers

7 April 2017

1 reference

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Towards an encyclopaedia of mammalian gene function: the International Mouse Phenotyping Consortium

7 April 2017

1 reference

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Five years of GWAS discovery

7 April 2017

1 reference

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A map of human genome variation from population-scale sequencing

7 April 2017

1 reference

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The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

7 April 2017

1 reference

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Lineage-specific biology revealed by a finished genome assembly of the mouse

7 April 2017

1 reference

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Initial sequencing and comparative analysis of the mouse genome

7 April 2017

1 reference

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Initial sequencing and analysis of the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602060

High throughput sequencing approaches to mutation discovery in the mouse

7 April 2017

1 reference

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Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

7 April 2017

1 reference

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A method and server for predicting damaging missense mutations

7 April 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

7 April 2017

1 reference

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Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

7 April 2017

1 reference

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Next-generation sequencing: from basic research to diagnostics

7 April 2017

1 reference

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Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

7 April 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 April 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

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

7 April 2017

1 reference

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SIFT: Predicting amino acid changes that affect protein function

7 April 2017

1 reference

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

7 April 2017

1 reference

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A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

7 April 2017

1 reference

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Real-time resolution of point mutations that cause phenovariance in mice

9 May 2017

1 reference

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Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep

28 September 2017

1 reference

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Validation and assessment of variant calling pipelines for next-generation sequencing

28 September 2017

1 reference

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Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

28 September 2017

1 reference

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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

28 September 2017

1 reference

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Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection

28 September 2017

1 reference

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Sequencing depth and coverage: key considerations in genomic analyses

28 September 2017

1 reference

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RefSeq: an update on mammalian reference sequences

28 September 2017

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The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

28 September 2017

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Variant callers for next-generation sequencing data: a comparison study

28 September 2017

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A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

28 September 2017

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A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome

28 September 2017

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Next-generation sequencing platforms

28 September 2017

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Interpretation of genomic variants using a unified biological network approach

28 September 2017

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The C-value paradox, junk DNA and ENCODE.

28 September 2017

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ENU-induced phenovariance in mice: inferences from 587 mutations

28 September 2017

1 reference

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Predicting the functional effect of amino acid substitutions and indels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602060

MuSiC: identifying mutational significance in cancer genomes

28 September 2017

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Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

28 September 2017

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Mutation mapping and identification by whole-genome sequencing

28 September 2017

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Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse.

28 September 2017

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Sample reproducibility of genetic association using different multimarker TDTs in genome-wide association studies: characterization and a new approach.

28 September 2017

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SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

28 September 2017

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Mutation discovery in mice by whole exome sequencing

28 September 2017

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Predicting the functional impact of protein mutations: application to cancer genomics

28 September 2017

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In-depth annotation of SNPs arising from resequencing projects using NGS-SNP

28 September 2017

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SDM--a server for predicting effects of mutations on protein stability and malfunction

28 September 2017

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Tissue-specific roles of Axin2 in the inhibition and activation of Wnt signaling in the mouse embryo

28 September 2017

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PathScan: a tool for discerning mutational significance in groups of putative cancer genes

28 September 2017

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The GENCODE exome: sequencing the complete human exome

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin

28 September 2017

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PhosSNP for systematic analysis of genetic polymorphisms that influence protein phosphorylation

28 September 2017

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ENU mutagenesis, a way forward to understand gene function

28 September 2017

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SNAP: predict effect of non-synonymous polymorphisms on function

28 September 2017

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A genetic screen for modifiers of the delta1-dependent notch signaling function in the mouse

28 September 2017

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A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

28 September 2017

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28 September 2017

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28 September 2017

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Illuminating autoimmune regulators through controlled variation of the mouse genome sequence

28 September 2017

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28 September 2017

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Effect of dose fractionation on the ethylnitrosourea induction of specific-locus mutations in mouse spermatogonia

28 September 2017

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Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

28 September 2017

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A tutorial on hidden Markov models and selected applications in speech recognition

21 January 2018

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MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

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21 January 2018

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