Cox, ASHG 2017 President Of all science, human genetics is no doubt most cognizant of the value of diversity.
Quite literally, we, as a science and as a species, would not be here without it.
10/ Identification of an autosomal recessive form of Noonan Syndrome.
Milewicz, University of Washington Center for Mendelian Genomics, Seattle, WA.
3/ An intronic tandem repeat affects Alzheimer’s disease, gene expression, and alternative splicing.
4/ Scalable computational quantification of gender representation and behavior at ASHG.
6/ Transcriptome analysis of mi RNA and m RNA in the PL/J mouse model of hypoxia-induced pulmonary arterial hypertension.
7/ Mechanistic interrogation of a gene-by-environment interaction informs the pathogenesis and treatment of Mendelian aneurysm disorders.
Beaudet and colleagues were the first to document uniparental disomy in humans. 1988T The genetic architecture of osteoarthritis: Insights from UK Biobank. 2336T Partitioning heritability of low-frequency variants reveals relative strength of negative selection across functional annotations. 11/ Novel insights into clinically relevant variation using the diverse sample populations of the PAGE study. NOTE: Overflow seating for this session is available in Room 220D. This session gives you a sneak peek at some of the top-scoring posters across a variety of topics through rapid-fire presentations.