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1/ Novel loci associated with skin pigmentation identified in African populations.
2/ An atlas of 8,342 mosaic structural variants reveals genetic drivers of clonal hematopoiesis.
1668F Identification of genetically associated changes in 3D-chromatin architecture by leveraging haplotype information across a three-generation family.
1716F is associated with a neurodevelopmental condition characterized by central hypomyelination, cerebellar atrophy and developmental delay.
545T WGS in pediatric neuroncology patients shows a preponderance of germline Mendelian disease gene mutations.
814W regulatory variation determines dynamic HLA-DQB1 allelic expression in response to T cell activation.
This session gives you a sneak peek at some of the top-scoring posters across a variety of topics through rapid-fire presentations.
7/ Mechanistic interrogation of a gene-by-environment interaction informs the pathogenesis and treatment of Mendelian aneurysm disorders. Later, they drew a key distinction between genetic and epigenetic diseases that both lead to altered expression of the same genes, and identified ways to study these and better understand the conditions they caused. Beaudets research focuses on neuronal carnitine deficiency as a risk factor for autism; the role of genomic imprinting in diseases; and prenatal genetic diagnosis based on fetal cells isolated from maternal blood. The ASHG Curt Stern Award recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. So this year, join me in celebrating that diversity, as we revisit some of the classic human genetics discoveries in balancing selection. It seems like a particularly important time to remind ourselves of the value of having a really deep understanding of the all of the genetic diversity in human populations and how local adaptations to specific environments, past and present, now reach through to affect our risk to what is often termed diseases of western diet and lifestyle. Technology advances are rapidly expanding our ability to catalog human variation, and a host of new kinds of -omics data and computational methods provide an ever better foundation for understanding how this genetic variation affects the entire spectrum of human phenotypes.
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8/ Identification of a novel marker for valve maturation: Loss of function causes progressive valve disease in mice and men.