Literature DB >> 21587300

Genotype and SNP calling from next-generation sequencing data.

Rasmus Nielsen1, Joshua S Paul, Anders Albrechtsen, Yun S Song.   

Abstract

Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data. We review these methods and provide a guide for their use in NGS studies.

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Year:  2011        PMID: 21587300      PMCID: PMC3593722          DOI: 10.1038/nrg2986

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  52 in total

1.  SNP detection for massively parallel whole-genome resequencing.

Authors:  Ruiqiang Li; Yingrui Li; Xiaodong Fang; Huanming Yang; Jian Wang; Karsten Kristiansen; Jun Wang
Journal:  Genome Res       Date:  2009-05-06       Impact factor: 9.043

2.  SOAP2: an improved ultrafast tool for short read alignment.

Authors:  Ruiqiang Li; Chang Yu; Yingrui Li; Tak-Wah Lam; Siu-Ming Yiu; Karsten Kristiansen; Jun Wang
Journal:  Bioinformatics       Date:  2009-06-03       Impact factor: 6.937

3.  De novo fragment assembly with short mate-paired reads: Does the read length matter?

Authors:  Mark J Chaisson; Dumitru Brinza; Pavel A Pevzner
Journal:  Genome Res       Date:  2008-12-03       Impact factor: 9.043

4.  ABySS: a parallel assembler for short read sequence data.

Authors:  Jared T Simpson; Kim Wong; Shaun D Jackman; Jacqueline E Schein; Steven J M Jones; Inanç Birol
Journal:  Genome Res       Date:  2009-02-27       Impact factor: 9.043

5.  The diploid genome sequence of an Asian individual.

Authors:  Jun Wang; Wei Wang; Ruiqiang Li; Yingrui Li; Geng Tian; Laurie Goodman; Wei Fan; Junqing Zhang; Jun Li; Juanbin Zhang; Yiran Guo; Binxiao Feng; Heng Li; Yao Lu; Xiaodong Fang; Huiqing Liang; Zhenglin Du; Dong Li; Yiqing Zhao; Yujie Hu; Zhenzhen Yang; Hancheng Zheng; Ines Hellmann; Michael Inouye; John Pool; Xin Yi; Jing Zhao; Jinjie Duan; Yan Zhou; Junjie Qin; Lijia Ma; Guoqing Li; Zhentao Yang; Guojie Zhang; Bin Yang; Chang Yu; Fang Liang; Wenjie Li; Shaochuan Li; Dawei Li; Peixiang Ni; Jue Ruan; Qibin Li; Hongmei Zhu; Dongyuan Liu; Zhike Lu; Ning Li; Guangwu Guo; Jianguo Zhang; Jia Ye; Lin Fang; Qin Hao; Quan Chen; Yu Liang; Yeyang Su; A San; Cuo Ping; Shuang Yang; Fang Chen; Li Li; Ke Zhou; Hongkun Zheng; Yuanyuan Ren; Ling Yang; Yang Gao; Guohua Yang; Zhuo Li; Xiaoli Feng; Karsten Kristiansen; Gane Ka-Shu Wong; Rasmus Nielsen; Richard Durbin; Lars Bolund; Xiuqing Zhang; Songgang Li; Huanming Yang; Jian Wang
Journal:  Nature       Date:  2008-11-06       Impact factor: 49.962

6.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.

Authors:  Ben Langmead; Cole Trapnell; Mihai Pop; Steven L Salzberg
Journal:  Genome Biol       Date:  2009-03-04       Impact factor: 13.583

7.  Population genomics of domestic and wild yeasts.

Authors:  Gianni Liti; David M Carter; Alan M Moses; Jonas Warringer; Leopold Parts; Stephen A James; Robert P Davey; Ian N Roberts; Austin Burt; Vassiliki Koufopanou; Isheng J Tsai; Casey M Bergman; Douda Bensasson; Michael J T O'Kelly; Alexander van Oudenaarden; David B H Barton; Elizabeth Bailes; Alex N Nguyen; Matthew Jones; Michael A Quail; Ian Goodhead; Sarah Sims; Frances Smith; Anders Blomberg; Richard Durbin; Edward J Louis
Journal:  Nature       Date:  2009-02-11       Impact factor: 49.962

8.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

9.  Evaluation of next generation sequencing platforms for population targeted sequencing studies.

Authors:  Olivier Harismendy; Pauline C Ng; Robert L Strausberg; Xiaoyun Wang; Timothy B Stockwell; Karen Y Beeson; Nicholas J Schork; Sarah S Murray; Eric J Topol; Samuel Levy; Kelly A Frazer
Journal:  Genome Biol       Date:  2009-03-27       Impact factor: 13.583

10.  A flexible and accurate genotype imputation method for the next generation of genome-wide association studies.

Authors:  Bryan N Howie; Peter Donnelly; Jonathan Marchini
Journal:  PLoS Genet       Date:  2009-06-19       Impact factor: 5.917

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  475 in total

Review 1.  Rep-Seq: uncovering the immunological repertoire through next-generation sequencing.

Authors:  Jennifer Benichou; Rotem Ben-Hamo; Yoram Louzoun; Sol Efroni
Journal:  Immunology       Date:  2012-03       Impact factor: 7.397

Review 2.  Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

Authors:  Xi Lin; Wenxue Tang; Shoeb Ahmad; Jingqiao Lu; Candice C Colby; Jason Zhu; Qing Yu
Journal:  Hear Res       Date:  2012-01-14       Impact factor: 3.208

3.  Genotype calling from next-generation sequencing data using haplotype information of reads.

Authors:  Degui Zhi; Jihua Wu; Nianjun Liu; Kui Zhang
Journal:  Bioinformatics       Date:  2012-01-27       Impact factor: 6.937

4.  Assessing the impact of non-differential genotyping errors on rare variant tests of association.

Authors:  Scott Powers; Shyam Gopalakrishnan; Nathan Tintle
Journal:  Hum Hered       Date:  2011-10-15       Impact factor: 0.444

5.  Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.

Authors:  Hui Yang; Kai Wang
Journal:  Nat Protoc       Date:  2015-09-17       Impact factor: 13.491

Review 6.  Methods for biological data integration: perspectives and challenges.

Authors:  Vladimir Gligorijević; Nataša Pržulj
Journal:  J R Soc Interface       Date:  2015-11-06       Impact factor: 4.118

7.  Imputing Genotypes in Biallelic Populations from Low-Coverage Sequence Data.

Authors:  Christopher A Fragoso; Christopher Heffelfinger; Hongyu Zhao; Stephen L Dellaporta
Journal:  Genetics       Date:  2015-12-29       Impact factor: 4.562

8.  PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studies.

Authors:  Peizhou Liao; Glen A Satten; Yi-Juan Hu
Journal:  Genet Epidemiol       Date:  2017-05-31       Impact factor: 2.135

9.  Common copy number variation detection from multiple sequenced samples.

Authors:  Junbo Duan; Hong-Wen Deng; Yu-Ping Wang
Journal:  IEEE Trans Biomed Eng       Date:  2014-03       Impact factor: 4.538

Review 10.  Systems analysis of high-throughput data.

Authors:  Rosemary Braun
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

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