The Undiagnosed Diseases Network (UDN) is participating in the American Society of Human Genetics (ASHG) Virtual Meeting from October 18-22, 2021. Click here for a printable list of UDN talks and posters.
PLATFORM PRESENTATIONS
1156 – Statistical framework uncovers deep intronic splice gain variants implicated in undiagnosed cases (S. Kobren)
POSTER PRESENTATIONS
2630 – Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome (M. A. Cousin)
2891 – Prioritizing Research Variants in the NIH Undiagnosed Diseases Program (D. R. Adams)
3002 – Characterizing repeat expansion variation in the Undiagnosed Disease Network cohort (S. Fazal)
3417 – Biallelic NAV2 truncating variants cause a neurodevelopmental disorder with cerebellar cortical dysplasia (J. A. Rosenfeld)
3435 – A heterozygous gain-of-function variant in KIF5B causes osteogenesis imperfecta by disrupting the Golgi-primary cilia axis (M. Washington)
3456 – Precision medicine models for undiagnosed and rare disease (L. C. Burrage)
3502 – Knowledge based artificial intelligence for variant pathogenicity prediction for Mendelian disorders (D. Mao)
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