An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data (Q30934831)

29 September 2017

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data (English)

1 reference

29 September 2017

1 reference

29 September 2017

Mary Kate Wing

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29 September 2017

Gonçalo R Abecasis

series ordinal

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29 September 2017

Hyun Min Kang

series ordinal

1 reference

29 September 2017

16 April 2015

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

918-925

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SSW library: an SIMD Smith-Waterman C/C++ library for use in genomic applications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

QPLOT: a quality assessment tool for next generation 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=4448687

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS 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=4448687

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=4448687

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=4448687

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype 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=4448687

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=4448687

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from 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=4448687

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=4448687

Low-coverage sequencing: implications for design of complex trait association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

Fast and accurate short 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=4448687

A second generation human haplotype map of over 3.1 million SNPs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

Improving support vector machine classifiers by modifying kernel functions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4448687

25 November 2018

Identifiers

DOI

10.1101/GR.176552.114

1 reference

29 September 2017

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29 September 2017

PubMed publication ID

25883319

1 reference