Literature DB >> 21921926

Haplotype phasing: existing methods and new developments.

Sharon R Browning1, Brian L Browning.   

Abstract

Determination of haplotype phase is becoming increasingly important as we enter the era of large-scale sequencing because many of its applications, such as imputing low-frequency variants and characterizing the relationship between genetic variation and disease susceptibility, are particularly relevant to sequence data. Haplotype phase can be generated through laboratory-based experimental methods, or it can be estimated using computational approaches. We assess the haplotype phasing methods that are available, focusing in particular on statistical methods, and we discuss the practical aspects of their application. We also describe recent developments that may transform this field, particularly the use of identity-by-descent for computational phasing.

Entities:  

Mesh:

Year:  2011        PMID: 21921926      PMCID: PMC3217888          DOI: 10.1038/nrg3054

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


  79 in total

1.  Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data.

Authors:  Na Li; Matthew Stephens
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

2.  SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples.

Authors:  Si Quang Le; Richard Durbin
Journal:  Genome Res       Date:  2010-10-27       Impact factor: 9.043

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

Authors:  Yun Li; Carlo Sidore; Hyun Min Kang; Michael Boehnke; Gonçalo R Abecasis
Journal:  Genome Res       Date:  2011-04-01       Impact factor: 9.043

4.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 5.  The importance of phase information for human genomics.

Authors:  Ryan Tewhey; Vikas Bansal; Ali Torkamani; Eric J Topol; Nicholas J Schork
Journal:  Nat Rev Genet       Date:  2011-02-08       Impact factor: 53.242

6.  Optimal algorithms for haplotype assembly from whole-genome sequence data.

Authors:  Dan He; Arthur Choi; Knot Pipatsrisawat; Adnan Darwiche; Eleazar Eskin
Journal:  Bioinformatics       Date:  2010-06-15       Impact factor: 6.937

7.  Detection of sharing by descent, long-range phasing and haplotype imputation.

Authors:  Augustine Kong; Gisli Masson; Michael L Frigge; Arnaldur Gylfason; Pasha Zusmanovich; Gudmar Thorleifsson; Pall I Olason; Andres Ingason; Stacy Steinberg; Thorunn Rafnar; Patrick Sulem; Magali Mouy; Frosti Jonsson; Unnur Thorsteinsdottir; Daniel F Gudbjartsson; Hreinn Stefansson; Kari Stefansson
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

8.  A survey of current software for haplotype phase inference.

Authors:  Michael E Weale
Journal:  Hum Genomics       Date:  2004-01       Impact factor: 4.639

9.  The diploid genome sequence of an individual human.

Authors:  Samuel Levy; Granger Sutton; Pauline C Ng; Lars Feuk; Aaron L Halpern; Brian P Walenz; Nelson Axelrod; Jiaqi Huang; Ewen F Kirkness; Gennady Denisov; Yuan Lin; Jeffrey R MacDonald; Andy Wing Chun Pang; Mary Shago; Timothy B Stockwell; Alexia Tsiamouri; Vineet Bafna; Vikas Bansal; Saul A Kravitz; Dana A Busam; Karen Y Beeson; Tina C McIntosh; Karin A Remington; Josep F Abril; John Gill; Jon Borman; Yu-Hui Rogers; Marvin E Frazier; Stephen W Scherer; Robert L Strausberg; J Craig Venter
Journal:  PLoS Biol       Date:  2007-09-04       Impact factor: 8.029

10.  HI: haplotype improver using paired-end short reads.

Authors:  Quan Long; Daniel MacArthur; Zemin Ning; Chris Tyler-Smith
Journal:  Bioinformatics       Date:  2009-07-01       Impact factor: 6.937

View more
  244 in total

1.  HapCompass: a fast cycle basis algorithm for accurate haplotype assembly of sequence data.

Authors:  Derek Aguiar; Sorin Istrail
Journal:  J Comput Biol       Date:  2012-06       Impact factor: 1.479

2.  Local host specialization, host-switching, and dispersal shape the regional distributions of avian haemosporidian parasites.

Authors:  Vincenzo A Ellis; Michael D Collins; Matthew C I Medeiros; Eloisa H R Sari; Elyse D Coffey; Rebecca C Dickerson; Camile Lugarini; Jeffrey A Stratford; Donata R Henry; Loren Merrill; Alix E Matthews; Alison A Hanson; Jackson R Roberts; Michael Joyce; Melanie R Kunkel; Robert E Ricklefs
Journal:  Proc Natl Acad Sci U S A       Date:  2015-08-24       Impact factor: 11.205

3.  Population-specific genotype imputations using minimac or IMPUTE2.

Authors:  Elisabeth M van Leeuwen; Alexandros Kanterakis; Patrick Deelen; Mathijs V Kattenberg; P Eline Slagboom; Paul I W de Bakker; Cisca Wijmenga; Morris A Swertz; Dorret I Boomsma; Cornelia M van Duijn; Lennart C Karssen; Jouke Jan Hottenga
Journal:  Nat Protoc       Date:  2015-07-30       Impact factor: 13.491

4.  GenomeLaser: fast and accurate haplotyping from pedigree genotypes.

Authors:  Wenzhi Li; Guoxing Fu; Weinian Rao; Wei Xu; Li Ma; Shiwen Guo; Qing Song
Journal:  Bioinformatics       Date:  2015-08-18       Impact factor: 6.937

5.  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

Review 6.  Application of computational methods in genetic study of inflammatory bowel disease.

Authors:  Jin Li; Zhi Wei; Hakon Hakonarson
Journal:  World J Gastroenterol       Date:  2016-01-21       Impact factor: 5.742

Review 7.  Introduction to deep sequencing and its application to drug addiction research with a focus on rare variants.

Authors:  Shaolin Wang; Zhongli Yang; Jennie Z Ma; Thomas J Payne; Ming D Li
Journal:  Mol Neurobiol       Date:  2013-08-30       Impact factor: 5.590

Review 8.  Detecting Somatic Mutations in Normal Cells.

Authors:  Yanmei Dou; Heather D Gold; Lovelace J Luquette; Peter J Park
Journal:  Trends Genet       Date:  2018-05-03       Impact factor: 11.639

Review 9.  The role of replicates for error mitigation in next-generation sequencing.

Authors:  Kimberly Robasky; Nathan E Lewis; George M Church
Journal:  Nat Rev Genet       Date:  2013-12-10       Impact factor: 53.242

10.  Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing.

Authors:  Sijia Lu; Chenghang Zong; Wei Fan; Mingyu Yang; Jinsen Li; Alec R Chapman; Ping Zhu; Xuesong Hu; Liya Xu; Liying Yan; Fan Bai; Jie Qiao; Fuchou Tang; Ruiqiang Li; X Sunney Xie
Journal:  Science       Date:  2012-12-21       Impact factor: 47.728

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.