Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. - Test2 - elhamkhani - TriplyDB

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

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Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives Next-generation sequencing: hype and hope for development of personalized radiation therapy?Deep sequencing of 10,000 human genomes The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery The Sequences of 1,504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies.A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data.arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.The impact of rare and low-frequency genetic variants in common disease New tools and approaches to newborn screening: ready to open Pandora's box?Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Genomic diagnosis for children with intellectual disability and/or developmental delay An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines.Interpreting whole genome and exome sequencing data of individual gastric cancer samples.Novel primary immunodeficiency candidate genes predicted by the human gene connectome Preferential Allele Expression Analysis Identifies Shared Germline and Somatic Driver Genes in Advanced Ovarian Cancer.Can the impact of human genetic variations be predicted?Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients.Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.The human gene damage index as a gene-level approach to prioritizing exome variants.Identification of Low-Confidence Regions in the Pig Reference Genome (Sscrofa10.2).Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.Clinical sequencing: is WGS the better WES?Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Comparative analyses across cattle genders and breeds reveal the pitfalls caused by false positive and lineage-differential copy number variations Advances in computational approaches for prioritizing driver mutations and significantly mutated genes in cancer genomes Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma.Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data Whole-genome sequencing approaches for conservation biology: advantages, limitations, and practical recommendations.Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.Exome sequencing explained: a practical guide to its clinical application.The prognostic value of TP53 mutations in oesophageal adenocarcinoma: a systematic review and meta-analysis.Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

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Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

http://www.wikidata.org/entity/Q35567101

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2015 nî lūn-bûn

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Proceedings of the National Academy of Sciences of the United States of America

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Whole-genome sequencing is mor ...... for detecting exome variants.

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Alexander Antipenko

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Alexandre Bolze

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Aziz Belkadi

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Yuval Itan

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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

Whole-exome-sequencing-based discovery of human FADD deficiency

Current status and new features of the Consensus Coding Sequence database

Targeted capture and massively parallel sequencing of 12 human exomes

Basic local alignment search tool

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

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

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Jean-Laurent Casanova

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274400508

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