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Rare-variant collapsing analyses for complex traits: guidelines and applications.

Publication ,  Journal Article
Povysil, G; Petrovski, S; Hostyk, J; Aggarwal, V; Allen, AS; Goldstein, DB
Published in: Nat Rev Genet
December 2019

The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing high-throughput sequencing have enabled a second phase of association studies that assess the contribution of rare variation to complex disease in all protein-coding genes. Unlike the early microarray-based studies, sequencing-based studies catalogue the full range of genetic variation, including the evolutionarily youngest forms. Although the experience with common variants helped establish relevant standards for genome-wide studies, the analysis of rare variation introduces several challenges that require novel analysis approaches.

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Published In

Nat Rev Genet

DOI

EISSN

1471-0064

Publication Date

December 2019

Volume

20

Issue

12

Start / End Page

747 / 759

Location

England

Related Subject Headings

  • Oligonucleotide Array Sequence Analysis
  • Multifactorial Inheritance
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetic Variation
  • Developmental Biology
  • Animals
  • 3105 Genetics
  • 3101 Biochemistry and cell biology
 

Citation

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Povysil, G., Petrovski, S., Hostyk, J., Aggarwal, V., Allen, A. S., & Goldstein, D. B. (2019). Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet, 20(12), 747–759. https://doi.org/10.1038/s41576-019-0177-4
Povysil, Gundula, Slavé Petrovski, Joseph Hostyk, Vimla Aggarwal, Andrew S. Allen, and David B. Goldstein. “Rare-variant collapsing analyses for complex traits: guidelines and applications.Nat Rev Genet 20, no. 12 (December 2019): 747–59. https://doi.org/10.1038/s41576-019-0177-4.
Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen AS, Goldstein DB. Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet. 2019 Dec;20(12):747–59.
Povysil, Gundula, et al. “Rare-variant collapsing analyses for complex traits: guidelines and applications.Nat Rev Genet, vol. 20, no. 12, Dec. 2019, pp. 747–59. Pubmed, doi:10.1038/s41576-019-0177-4.
Povysil G, Petrovski S, Hostyk J, Aggarwal V, Allen AS, Goldstein DB. Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet. 2019 Dec;20(12):747–759.

Published In

Nat Rev Genet

DOI

EISSN

1471-0064

Publication Date

December 2019

Volume

20

Issue

12

Start / End Page

747 / 759

Location

England

Related Subject Headings

  • Oligonucleotide Array Sequence Analysis
  • Multifactorial Inheritance
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetic Variation
  • Developmental Biology
  • Animals
  • 3105 Genetics
  • 3101 Biochemistry and cell biology