Literature DB >> 22138362

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools.

F Anthony San Lucas1, Gao Wang, Paul Scheet, Bo Peng.   

Abstract

MOTIVATION: Storing, annotating and analyzing variants from next-generation sequencing projects can be difficult due to the availability of a wide array of data formats, tools and annotation sources, as well as the sheer size of the data files. Useful tools, including the GATK, ANNOVAR and BEDTools can be integrated into custom pipelines for annotating and analyzing sequence variants. However, building flexible pipelines that support the tracking of variants alongside their samples, while enabling updated annotation and reanalyses, is not a simple task.
RESULTS: We have developed variant tools, a flexible annotation and analysis toolset that greatly simplifies the storage, annotation and filtering of variants and the analysis of the underlying samples. variant tools can be used to manage and analyze genetic variants obtained from sequence alignments, and the command-line driven toolset could be used as a foundation for building more sophisticated analytical methods.
AVAILABILITY AND IMPLEMENTATION: variant tools consists of two command-line driven programs vtools and vtools_report. It is freely available at http://varianttools.sourceforge.net, distributed under a GPL license. CONTACT: bpeng@mdanderson.org.

Mesh:

Year:  2011        PMID: 22138362      PMCID: PMC3268240          DOI: 10.1093/bioinformatics/btr667

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  6 in total

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Authors:  M Kanehisa; S Goto
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

2.  BEDTools: a flexible suite of utilities for comparing genomic features.

Authors:  Aaron R Quinlan; Ira M Hall
Journal:  Bioinformatics       Date:  2010-01-28       Impact factor: 6.937

3.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Authors:  Kai Wang; Mingyao Li; Hakon Hakonarson
Journal:  Nucleic Acids Res       Date:  2010-07-03       Impact factor: 16.971

4.  dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions.

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Journal:  Hum Mutat       Date:  2011-08       Impact factor: 4.878

5.  The variant call format and VCFtools.

Authors:  Petr Danecek; Adam Auton; Goncalo Abecasis; Cornelis A Albers; Eric Banks; Mark A DePristo; Robert E Handsaker; Gerton Lunter; Gabor T Marth; Stephen T Sherry; Gilean McVean; Richard Durbin
Journal:  Bioinformatics       Date:  2011-06-07       Impact factor: 6.937

6.  The UCSC Genome Browser Database: update 2006.

Authors:  A S Hinrichs; D Karolchik; R Baertsch; G P Barber; G Bejerano; H Clawson; M Diekhans; T S Furey; R A Harte; F Hsu; J Hillman-Jackson; R M Kuhn; J S Pedersen; A Pohl; B J Raney; K R Rosenbloom; A Siepel; K E Smith; C W Sugnet; A Sultan-Qurraie; D J Thomas; H Trumbower; R J Weber; M Weirauch; A S Zweig; D Haussler; W J Kent
Journal:  Nucleic Acids Res       Date:  2006-01-01       Impact factor: 16.971

  6 in total
  66 in total

1.  gSearch: a fast and flexible general search tool for whole-genome sequencing.

Authors:  Taemin Song; Kyu-Baek Hwang; Michael Hsing; Kyungjoon Lee; Justin Bohn; Sek Won Kong
Journal:  Bioinformatics       Date:  2012-06-23       Impact factor: 6.937

2.  Variant association tools for quality control and analysis of large-scale sequence and genotyping array data.

Authors:  Gao T Wang; Bo Peng; Suzanne M Leal
Journal:  Am J Hum Genet       Date:  2014-05-01       Impact factor: 11.025

3.  Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

Authors:  Jun Li; Hongyan Li; Igor Makunin; Bryony A Thompson; Kayoko Tao; Erin L Young; Jacqueline Lopez; Nicola J Camp; Sean V Tavtigian; Esther M John; Irene L Andrulis; Kum Kum Khanna; David Goldgar; Georgia Chenevix-Trench
Journal:  Breast Cancer Res Treat       Date:  2017-08-24       Impact factor: 4.872

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Authors:  Minerva Angélica Romero Arenas; Richard G Fowler; F Anthony San Lucas; Jie Shen; Thereasa A Rich; Elizabeth G Grubbs; Jeffrey E Lee; Paul Scheet; Nancy D Perrier; Hua Zhao
Journal:  Surgery       Date:  2014-11-11       Impact factor: 3.982

Review 5.  Identifying rare variants associated with complex traits via sequencing.

Authors:  Bingshan Li; Dajiang J Liu; Suzanne M Leal
Journal:  Curr Protoc Hum Genet       Date:  2013-07

6.  Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Authors:  Jennifer A Wambach; Georg M Stettner; Tobias B Haack; Karin Writzl; Andreja Škofljanec; Aleš Maver; Francina Munell; Stephan Ossowski; Mattia Bosio; Daniel J Wegner; Marwan Shinawi; Dustin Baldridge; Bader Alhaddad; Tim M Strom; Dorothy K Grange; Ekkehard Wilichowski; Robin Troxell; James Collins; Barbara B Warner; Robert E Schmidt; Alan Pestronk; F Sessions Cole; Robert Steinfeld
Journal:  Hum Mutat       Date:  2017-08-17       Impact factor: 4.878

7.  Gene expression elucidates functional impact of polygenic risk for schizophrenia.

Authors:  Menachem Fromer; Panos Roussos; Solveig K Sieberts; Jessica S Johnson; David H Kavanagh; Thanneer M Perumal; Douglas M Ruderfer; Edwin C Oh; Aaron Topol; Hardik R Shah; Lambertus L Klei; Robin Kramer; Dalila Pinto; Zeynep H Gümüş; A Ercument Cicek; Kristen K Dang; Andrew Browne; Cong Lu; Lu Xie; Ben Readhead; Eli A Stahl; Jianqiu Xiao; Mahsa Parvizi; Tymor Hamamsy; John F Fullard; Ying-Chih Wang; Milind C Mahajan; Jonathan M J Derry; Joel T Dudley; Scott E Hemby; Benjamin A Logsdon; Konrad Talbot; Towfique Raj; David A Bennett; Philip L De Jager; Jun Zhu; Bin Zhang; Patrick F Sullivan; Andrew Chess; Shaun M Purcell; Leslie A Shinobu; Lara M Mangravite; Hiroyoshi Toyoshiba; Raquel E Gur; Chang-Gyu Hahn; David A Lewis; Vahram Haroutunian; Mette A Peters; Barbara K Lipska; Joseph D Buxbaum; Eric E Schadt; Keisuke Hirai; Kathryn Roeder; Kristen J Brennand; Nicholas Katsanis; Enrico Domenici; Bernie Devlin; Pamela Sklar
Journal:  Nat Neurosci       Date:  2016-09-26       Impact factor: 24.884

8.  Physiological and transcriptional responses of two contrasting Populus clones to nitrogen stress.

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9.  Clinicopathologic characteristics and gene expression analyses of non-KRAS 12/13, RAS-mutated metastatic colorectal cancer.

Authors:  V K Morris; F A San Lucas; M J Overman; C Eng; M P Morelli; Z-Q Jiang; R Luthra; F Meric-Bernstam; D Maru; P Scheet; S Kopetz; E Vilar
Journal:  Ann Oncol       Date:  2014-07-09       Impact factor: 32.976

10.  Central precocious puberty caused by mutations in the imprinted gene MKRN3.

Authors:  Ana Paula Abreu; Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser
Journal:  N Engl J Med       Date:  2013-06-05       Impact factor: 91.245

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