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

автор

Jason A O'Rawe

Hakon Hakonarson

2000 -

Kai Wang

Gholson J Lyon

опубликовано в: Genome Medicine

дата публикации: 2013-03-27

главная тема: секвенирование полного генома

Cites articles 58

Дата

Заголовок

Авторы

2012-11-01

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

Gilean McVean, Gonçalo Abecasis, Richard M. Durbin, Adam Auton, Robert E Handsaker, Vineet Bafna, Klaudia Walter, Andrew G. Clark, Andrea Angius, Matthew Hurles, Gabor T Marth
2012-10-03

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

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2012-08-01

Phasing of many thousands of genotyped samples

Amy L Williams, Joseph Glessner, Hakon Hakonarson, Паттерсон, Николас, Райх, Дэвид
2012

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
2012-07-22

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Christian Fuchsberger, Gonçalo Abecasis
2012

Limitations of the human reference genome for personalized genomics

Кристофер Мэйсон
2012-07-24

A public resource facilitating clinical use of genomes

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2012-07-11

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2012-03-24

Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection

Noam Shomron
2012-06-04

Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score
2012-05-29

Human genetic individuality
2012-07-06

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

Gonçalo Abecasis, Eric Boerwinkle, David Altshuler, Стейси Гэбриел, Carlos D. Bustamante, Suzanne M. Leal
2012-04-01

De novo gene disruptions in children on the autistic spectrum

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2012-04-12

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

Elaine T Lim, Maria H Chahrour, Timothy W Yu, Стейси Гэбриел, Уолш, Кристофер (1957)
2012-04-04

Patterns and rates of exonic de novo mutations in autism spectrum disorders

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2012-04-04

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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2012-04-04

De novo mutations revealed by whole-exome sequencing are strongly associated with autism
2012-03-07

Detecting and annotating genetic variations using the HugeSeq pipeline

Jeffrey M. Kidd, Maeve O'Huallachain, Rajini Haraksingh, Mark Bender Gerstein, Carlos D. Bustamante, Michael P. Snyder, Cuiping Pan
2012-05-17

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

Jun Wang, Gonçalo Abecasis, Dana Fraser, Simon Topp, John Whittaker, Matthew D. Hall, Daniel Wegmann
2011-11

Genotype imputation with thousands of genomes

Jonathan Marchini
2011-12-18

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

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2011-12-18

Performance comparison of whole-genome sequencing platforms

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2011-11-29

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Peter Robinson, Stefan Mundlos, Peter Krawitz, Sebastian Bauer
2011-09

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

Carlos D. Bustamante, Michelle Whirl-Carrillo, Emidio Capriotti, Konrad J. Karczewski, Sean P. David, Heidi L. Rehm, Чёрч, Джордж, Atul Butte, Russ Altman, Michael P. Snyder, Matthew T Wheeler, Colleen Caleshu, Mark Woon, Katrin Sangkuhl, Joseph V Thakuria, Teri Klein
2011-08-03

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

Hakon Hakonarson, Pingzhao Hu
2011-07-01

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

Hakon Hakonarson, Kai Wang, Reid Robison, Gholson J Lyon, Jinchuan Xing, Barry Moore II, Mark Yandell, Joseph Glessner
2011-06-23

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

Thomas Arnesen, Lynne M Bird, Hakon Hakonarson, Leslie G Biesecker, Lynn Jorde, John Marius Opitz, Kai Wang, Reid Robison, Gholson J Lyon, Alan F Rope, Jinchuan Xing, Jeffrey J. Swensen, Barry Moore II, Chad D. Huff, Cathy A. Stevens, Christa Schank, Heidi Deborah Fain, Brian Dalley, Theodore J. Pysher, Johan R. Lillehaug, Rune Evjenth, Mark Yandell
2011-07

Variation in genome-wide mutation rates within and between human families

Philip Awadalla, Guy A. Rouleau, Sarah J. Lindsay, Carlos Torroja, Ferran Casals, Mark Joseph Daly, Reed A Cartwright, Klaudia Walter, Andrew G. Clark, Andreas Dahl, Matthew Hurles, Donald F Conrad
2011-06-01

Genotype and SNP calling from next-generation sequencing data

Rasmus Nielsen, Anders Albrechtsen
2011-05

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

Mark Joseph Daly, David Altshuler, Стейси Гэбриел, Manuel Antonio Rivas
2011-04-01

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

Carlo Sidore, Gonçalo Abecasis, Michael Boehnke
2011-04-01

Natural genetic variation caused by small insertions and deletions in the human genome

Chris Ponting, Julienne M. Mullaney, Ryan E. Mills

Статья - wd:Q41822367

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