Literature DB >> 28637275

16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model.

Ruibang Luo1,2, Michael C Schatz1,2, Steven L Salzberg1,2,3.   

Abstract

16GT is a variant caller for Illumina whole-genome and whole-exome sequencing data. It uses a new 16-genotype probabilistic model to unify single nucleotide polymorphism and insertion and deletion calling in a single variant calling algorithm. In benchmark comparisons with 5 other widely used variant callers on a modern 36-core server, 16GT demonstrated improved sensitivity in calling single nucleotide polymorphisms, and it provided comparable sensitivity and accuracy for calling insertions and deletions as compared to the GATK HaplotypeCaller. 16GT is available at https://github.com/aquaskyline/16GT.
© The Authors 2017. Published by Oxford University Press.

Entities:  

Keywords:  Bayesian model; SNP calling; indel calling; variant calling

Mesh:

Year:  2017        PMID: 28637275      PMCID: PMC5570013          DOI: 10.1093/gigascience/gix045

Source DB:  PubMed          Journal:  Gigascience        ISSN: 2047-217X            Impact factor:   6.524


  11 in total

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Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

2.  Dindel: accurate indel calls from short-read data.

Authors:  Cornelis A Albers; Gerton Lunter; Daniel G MacArthur; Gilean McVean; Willem H Ouwehand; Richard Durbin
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3.  VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

Authors:  Daniel C Koboldt; Qunyuan Zhang; David E Larson; Dong Shen; Michael D McLellan; Ling Lin; Christopher A Miller; Elaine R Mardis; Li Ding; Richard K Wilson
Journal:  Genome Res       Date:  2012-02-02       Impact factor: 9.043

4.  FermiKit: assembly-based variant calling for Illumina resequencing data.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2015-07-27       Impact factor: 6.937

5.  Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.

Authors:  Come Raczy; Roman Petrovski; Christopher T Saunders; Ilya Chorny; Semyon Kruglyak; Elliott H Margulies; Han-Yu Chuang; Morten Källberg; Swathi A Kumar; Arnold Liao; Kristina M Little; Michael P Strömberg; Stephen W Tanner
Journal:  Bioinformatics       Date:  2013-06-04       Impact factor: 6.937

6.  Improving SNP discovery by base alignment quality.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2011-02-13       Impact factor: 6.937

7.  Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

Authors:  Justin M Zook; Brad Chapman; Jason Wang; David Mittelman; Oliver Hofmann; Winston Hide; Marc Salit
Journal:  Nat Biotechnol       Date:  2014-02-16       Impact factor: 54.908

8.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

9.  SpeedSeq: ultra-fast personal genome analysis and interpretation.

Authors:  Colby Chiang; Ryan M Layer; Gregory G Faust; Michael R Lindberg; David B Rose; Erik P Garrison; Gabor T Marth; Aaron R Quinlan; Ira M Hall
Journal:  Nat Methods       Date:  2015-08-10       Impact factor: 28.547

10.  BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU.

Authors:  Ruibang Luo; Yiu-Lun Wong; Wai-Chun Law; Lap-Kei Lee; Jeanno Cheung; Chi-Man Liu; Tak-Wah Lam
Journal:  PeerJ       Date:  2014-06-03       Impact factor: 2.984

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  6 in total

1.  16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model.

Authors:  Ruibang Luo; Michael C Schatz; Steven L Salzberg
Journal:  Gigascience       Date:  2017-07-01       Impact factor: 6.524

2.  Joint Estimates of Heterozygosity and Runs of Homozygosity for Modern and Ancient Samples.

Authors:  Gabriel Renaud; Kristian Hanghøj; Thorfinn Sand Korneliussen; Eske Willerslev; Ludovic Orlando
Journal:  Genetics       Date:  2019-05-14       Impact factor: 4.562

3.  A universal SNP and small-indel variant caller using deep neural networks.

Authors:  Ryan Poplin; Pi-Chuan Chang; David Alexander; Scott Schwartz; Thomas Colthurst; Alexander Ku; Dan Newburger; Jojo Dijamco; Nam Nguyen; Pegah T Afshar; Sam S Gross; Lizzie Dorfman; Cory Y McLean; Mark A DePristo
Journal:  Nat Biotechnol       Date:  2018-09-24       Impact factor: 54.908

4.  Looking back: forward looking.

Authors:  Scott C Edmunds; Nicole A Nogoy; Hans Zauner; Peter Li; Christopher I Hunter; Xiao Si Zhe; Laurie Goodman
Journal:  Gigascience       Date:  2017-09-01       Impact factor: 6.524

5.  Genomic diversity affects the accuracy of bacterial single-nucleotide polymorphism-calling pipelines.

Authors:  Stephen J Bush; Dona Foster; David W Eyre; Emily L Clark; Nicola De Maio; Liam P Shaw; Nicole Stoesser; Tim E A Peto; Derrick W Crook; A Sarah Walker
Journal:  Gigascience       Date:  2020-02-01       Impact factor: 6.524

6.  Comparison of seven SNP calling pipelines for the next-generation sequencing data of chickens.

Authors:  Jing Liu; Qingmiao Shen; Haigang Bao
Journal:  PLoS One       Date:  2022-01-31       Impact factor: 3.240

  6 in total

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