The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0279-z.pdf
Reference28 articles.
1. Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Genome Med. 2017;9:13. PubMed PMID: 28166811. Pubmed Central PMCID: 5295186.
2. Whiffin N, Minikel E, Walsh R, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genetics in medicine : official journal of the American College of Medical Genetics. 2017;19:1151–8. PubMed PMID: 28518168. Pubmed Central PMCID: 5563454.
3. Bomba L, Walter K, Soranzo N. The impact of rare and low-frequency genetic variants in common disease. Genome Biol. 2017;18:77. PubMed PMID: 28449691. Pubmed Central PMCID: 5408830.
4. Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91. PubMed PMID: 27535533. Pubmed Central PMCID: 5018207.
5. Genomes Project C, Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061–73. PubMed PMID: 20981092. Pubmed Central PMCID: 3042601.
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