(Q35567101)

8 August 2017

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

1 reference

8 August 2017

whole genome sequencing

1 reference

based on heuristic

inferred from title

author

Jean-Laurent Casanova

9

1 reference

8 August 2017

Quentin B Vincent

5

0 references

Aurélie Cobat

Aurélie Cobat

4

0 references

Bertrand Boisson

Bertrand Boisson

8

0 references

Laurent Abel

Laurent Abel

10

0 references

Yuval Itan

3

Yuval Itan

1 reference

8 August 2017

Aziz Belkadi

1

1 reference

8 August 2017

Alexandre Bolze

2

1 reference

8 August 2017

Alexander Antipenko

6

1 reference

8 August 2017

Lei Shang

7

1 reference

8 August 2017

language of work or name

English

0 references

publication date

31 March 2015

1 reference

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

8 August 2017

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8 August 2017

112

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8 August 2017

17

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8 August 2017

5473-5478

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Exome sequence read depth methods for identifying copy number changes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Variant detection sensitivity and biases in whole genome and exome sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Whole-genome sequence variation, population structure and demographic history of the Dutch population

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Genome sequencing identifies major causes of severe intellectual disability

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

An evaluation of copy number variation detection tools from whole-exome sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

A general framework for estimating the relative pathogenicity of human genetic variants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

The next-generation sequencing revolution and its impact on genomics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

The human gene connectome as a map of short cuts for morbid allele discovery

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Copy number variation detection and genotyping from exome sequence data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Exome sequencing as a tool for Mendelian disease gene discovery

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Targeted capture and massively parallel sequencing of 12 human exomes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Basic local alignment search tool

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Reducing INDEL calling errors in whole genome and exome sequencing data

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Current status and new features of the Consensus Coding Sequence database

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Performance comparison of exome DNA sequencing technologies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4418901

26 September 2018

Identifiers

DOI

10.1073/PNAS.1418631112

1 reference

8 August 2017

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1 reference

8 August 2017

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