(Q35155705)

6 August 2017

title

Analytical validation of whole exome and whole genome sequencing for clinical applications (English)

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6 August 2017

main subject

whole genome sequencing

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9

Andrew Kasarskis

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6 August 2017

10

Eric E Schadt

1 reference

6 August 2017

8

Hardik Shah

1 reference

6 August 2017

Michael D Linderman

1

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6 August 2017

Tracy Brandt

2

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6 August 2017

Lisa Edelmann

3

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6 August 2017

Omar Jabado

4

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6 August 2017

Yumi Kasai

5

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6 August 2017

Ruth Kornreich

6

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6 August 2017

Milind Mahajan

7

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6 August 2017

publication date

23 April 2014

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6 August 2017

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6 August 2017

volume

7

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6 August 2017

page(s)

20

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8794-7-20

6 August 2017

exact match

0 references

cites work

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1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

13 July 2018

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

13 July 2018

1 reference

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ACMG clinical laboratory standards for next-generation sequencing

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

13 July 2018

1 reference

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Assuring the quality of next-generation sequencing in clinical laboratory practice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

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

13 July 2018

1 reference

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Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

13 July 2018

1 reference

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

13 July 2018

1 reference

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A systematic survey of loss-of-function variants in human protein-coding genes

13 July 2018

1 reference

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13 July 2018

1 reference

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Comprehensive comparison of three commercial human whole-exome capture platforms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

Performance comparison of exome DNA sequencing technologies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

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

13 July 2018

1 reference

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Dindel: accurate indel calls from short-read data

13 July 2018

1 reference

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

13 July 2018

1 reference

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BEDTools: a flexible suite of utilities for comparing genomic features

13 July 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

High-throughput SNP genotyping on universal bead arrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022392

27 September 2018

Identifiers

DOI

10.1186/1755-8794-7-20

1 reference

Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

1 reference