Estimating genotype error rates from high-coverage next-generation sequence data (Q30859169)

15 October 2017

Estimating genotype error rates from high-coverage next-generation sequence data (English)

1 reference

15 October 2017

6

Catherine Schaefer

1 reference

15 October 2017

Jeffrey D Wall

1

1 reference

15 October 2017

Ling Fung Tang

2

1 reference

15 October 2017

Brandon Zerbe

3

1 reference

15 October 2017

Mark N Kvale

4

1 reference

15 October 2017

Pui-Yan Kwok

5

1 reference

15 October 2017

Neil Risch

7

1 reference

15 October 2017

10 October 2014

1 reference

15 October 2017

1 reference

15 October 2017

24

1 reference

15 October 2017

11

1 reference

15 October 2017

1734-1739

1 reference

Quantifying single nucleotide variant detection sensitivity in exome sequencing

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Characterizing and measuring bias in sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Performance comparison of whole-genome sequencing platforms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Performance comparison of exome DNA sequencing technologies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Sequence-specific error profile of Illumina sequencers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

A map of human genome variation from population-scale sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Exome sequencing identifies the cause of a mendelian disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Targeted capture and massively parallel sequencing of 12 human exomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Accurate whole human genome sequencing using reversible terminator chemistry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4216915

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1101/GR.168393.113

21 January 2018

Identifiers

DOI

10.1101/GR.168393.113

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

25304867

1 reference