Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms
Han Fang, Yiyang Wu, Margaret Yoon, Laura T. Jiménez-Barrón, Jason A. O’Rawe, Gareth Highnam, David Mittelman, Gholson J. Lyon
This paper reports whole genome sequencing of a family with PWS, HH, and dysautonomia-like symptoms, identifying genetic variants and highlighting the importance of standardized phenotypic and genomic data.
bioRxiv · May 11, 2015 · PreprintGenetics