Exome versus transcriptome sequencing in identifying coding region variants (Q37999069)

26 August 2017

title

Exome versus transcriptome sequencing in identifying coding region variants (English)

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26 August 2017

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26 August 2017

Richie Soong

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Yudi Pawitan

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object named as

Yudi Pawitan

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26 August 2017

Chee-Seng Ku

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26 August 2017

Mengchu Wu

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26 August 2017

Brendan Pang

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Barry Iacopetta

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26 August 2017

publication date

1 April 2012

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

26 August 2017

published in

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26 August 2017

volume

12

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26 August 2017

issue

3

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26 August 2017

page(s)

241-251

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The impact of next-generation sequencing technology on genetics

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cites work

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Next-generation DNA sequencing

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The complete genome of an individual by massively parallel DNA sequencing

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The diploid genome sequence of an Asian individual

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The $1,000 genome, the $100,000 analysis?

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The real cost of sequencing: higher than you think!

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Challenges of sequencing human genomes

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Exome sequencing: the sweet spot before whole genomes

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Massively parallel sequencing and rare disease

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What can exome sequencing do for you?

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Exome sequencing: a transformative technology

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Targeted capture and massively parallel sequencing of 12 human exomes

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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

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Revisiting Mendelian disorders through exome sequencing

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Exome sequencing as a tool for Mendelian disease gene discovery

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Unraveling the genetics of cancer: genome sequencing and beyond

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Exome sequencing identifies the cause of a mendelian disorder

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

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Comprehensive comparison of three commercial human whole-exome capture platforms

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Performance comparison of exome DNA sequencing technologies

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Targeted enrichment of genomic DNA regions for next-generation sequencing

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Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing

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Detection of single nucleotide variations in expressed exons of the human genome using RNA-Seq

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RNA-Seq: a revolutionary tool for transcriptomics

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Applications of new sequencing technologies for transcriptome analysis.

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RNA sequencing: advances, challenges and opportunities

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A comparative analysis of exome capture

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Comparison of solution-based exome capture methods for next generation sequencing

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Sequencing technologies - the next generation

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Virtual terminator nucleotides for next-generation DNA sequencing.

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Real-time DNA sequencing from single polymerase molecules

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A window into third-generation sequencing

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Direct RNA sequencing

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MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

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Targeted RNA sequencing reveals the deep complexity of the human transcriptome

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Massively parallel sequencing of ataxia genes after array-based enrichment

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Computational and statistical approaches to analyzing variants identified by exome sequencing

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RNA-Seq and find: entering the RNA deep field

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Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

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Allele-specific gene expression is widespread across the genome and biological processes

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Transcriptome sequencing of malignant pleural mesothelioma tumors

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Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution

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Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts

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Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma.

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

21 January 2018

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Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

21 January 2018

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

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Whole exome and whole genome sequencing

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Medical DNA sequencing

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Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

21 January 2018

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

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Advances in Alport syndrome diagnosis using next-generation sequencing

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An integrated semiconductor device enabling non-optical genome sequencing

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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

21 January 2018

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Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

21 January 2018

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BRAF mutations in hairy-cell leukemia

21 January 2018

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Exome sequencing identifies GRIN2A as frequently mutated in melanoma

21 January 2018

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Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progression

21 January 2018

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The functional role of long non-coding RNA in human carcinomas

21 January 2018

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The emergence of lncRNAs in cancer biology

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Faster human genome sequencing

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Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing

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Mutation ofFOXL2in Granulosa-Cell Tumors of the Ovary

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Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

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21 January 2018

Identifiers

DOI

10.1586/ERM.12.10

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26 August 2017

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