Exome sequencing of Finnish isolates enhances rare-variant association power-Reference-Cited by-同舟云学术

Exome sequencing of Finnish isolates enhances rare-variant association power

Published:2019-07-31 Issue:7769 Volume:572 Page:323-328
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Locke Adam E., ,Steinberg Karyn Meltz,Chiang Charleston W. K.,Service Susan K.,Havulinna Aki S.,Stell Laurel,Pirinen Matti,Abel Haley J.,Chiang Colby C.,Fulton Robert S.,Jackson Anne U.,Kang Chul Joo,Kanchi Krishna L.,Koboldt Daniel C.,Larson David E.,Nelson Joanne,Nicholas Thomas J.,Pietilä Arto,Ramensky Vasily,Ray Debashree,Scott Laura J.,Stringham Heather M.,Vangipurapu Jagadish,Welch Ryan,Yajnik Pranav,Yin Xianyong,Eriksson Johan G.,Ala-Korpela Mika,Järvelin Marjo-Riitta,Männikkö Minna,Laivuori Hannele,Dutcher Susan K.,Stitziel Nathan O.,Wilson Richard K.,Hall Ira M.,Sabatti Chiara,Palotie Aarno,Salomaa Veikko,Laakso Markku,Ripatti Samuli,Boehnke Michael,Freimer Nelson B.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41586-019-1457-z.pdf

Reference76 articles.

1. Samocha, K. E. et al. Regional missense constraint improves variant deleteriousness prediction. Preprint at https://www.bioRxiv.org/content/10.1101/148353v1 (2017).

2. Marouli, E. et al. Rare and low-frequency coding variants alter human adult height. Nature 542, 186–190 (2017).

3. Flannick, J. et al. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature 570, 71–76 (2019).

4. Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J. & Richards, J. B. Genetic architecture: the shape of the genetic contribution to human traits and disease. Nat. Rev. Genet. 19, 110–124 (2018).

5. Zuk, O. et al. Searching for missing heritability: designing rare variant association studies. Proc. Natl Acad. Sci. USA 111, E455–E464 (2014).

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