Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah E. Einson, Christina Sousa, Paul Hoffman, Sandra C. Donkervoort, Zhuoxun Jiang, Payam Mohassel, Aileen Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bönnemann, Daniel G. MacArthur, Tuuli Lappalainen
ANEVA quantifies genetic regulatory variation using allelic expression data, improving transcriptome analysis and aiding in rare disease diagnosis.
Science · Oct 10, 2019Peer-reviewedGenomics