GeneticsbioRxivPreprint
Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms
Han Fang, Yiyang Wu, Margaret Yoon…·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.
DOI 10.1101/019182