Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Whiffin N.; Roberts AM.; Minikel E.; Zappala Z.; Walsh R.; O'Donnell-Luria AH.; Karczewski KJ.; Harrison SM.; Thomson KL.; Sage H.; Ing AY.; Barton PJR.; Funke B.; Cook SA.; MacArthur DG.; Ware JS.

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Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Whiffin N., Roberts AM., Minikel E., Zappala Z., Walsh R., O'Donnell-Luria AH., Karczewski KJ., Harrison SM., Thomson KL., Sage H., Ing AY., Barton PJR., Funke B., Cook SA., MacArthur DG., Ware JS.

Original publication

DOI

10.1016/j.ajhg.2018.11.012

Type

Journal article

Journal

American journal of human genetics

Publication Date

01/2019

Volume

104

Pages

187 - 190

Addresses

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK.

Keywords

Prevalence, Genome, Genetic Variation