MARV: a tool for genome-wide multi-phenotype analysis of rare variants-Reference-Cited by-同舟云学术

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MARV: a tool for genome-wide multi-phenotype analysis of rare variants

Published:2017-02-16 Issue:1 Volume:18 Page:
ISSN:1471-2105
Container-title:BMC Bioinformatics
language:en
Short-container-title:BMC Bioinformatics

Author:

Kaakinen Marika^ORCID,Mägi Reedik,Fischer Krista,Heikkinen Jani,Järvelin Marjo-Riitta,Morris Andrew P.,Prokopenko Inga

Funder

Seventh Framework Programme

Wellcome Trust (GB)

Elsie Widdowson

Oulun Yliopisto

Oulu University Hospital

Ministry of Health and Social Affairs Finland

National Intitute for Health and Welfare

Regional Intitute for Occupational Health

Publisher

Springer Science and Business Media LLC

Subject

Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology

Link

http://link.springer.com/content/pdf/10.1186/s12859-017-1530-2.pdf

Reference37 articles.

1. Schatz MC. Biological data sciences in genome research. Genome Res. 2015;25:1417–22.

2. McVean GA, Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C, Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry ST, Wang J, Wilson RK, Gibbs RA, Dinh H, Kovar C, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(V):56–65.

3. Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JRB, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Brent Richards J, Greenwood CMT, Timpson NJ, Durbin R, Soranzo N, Bala S, Clapham P, et al. The UK10K project identifies rare variants in health and disease. Nature. 2015;526:82–90.

4. The Haplotype Reference Consortium [ http://www.haplotype-reference-consortium.org/home ]. Accessed 8 Feb 2017.

5. Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, Danecek P, Malerba G, Trabetti E, Zheng H-F, UK10K Consortium, Gambaro G, Richards JB, Durbin R, Timpson NJ, Marchini J, Soranzo N. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun. 2015;6:8111.

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