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UID:c47d883d-a857-481d-95a4-e2f5b8499d17@nexttoyou
DTSTAMP:20261106T164952Z
DTSTART:20261106T160000Z
DTEND:20261106T170000Z
SUMMARY:PowerTalk Seminar Series: Predrag Radivojac\, PhD
LOCATION:Altec/Styslinger Genomic Medicine and Data Sciences Building 201\
 , 701 19th St S Birmingham\, Alabama 35233
DESCRIPTION:Join us for an insightful bioinformatics presentation by Predr
 ag Radivojac\, PhD\, Professor and Associate Dean for Research\, Khoury C
 ollege of Computer Sciences\, Northeastern University\, President\, Inter
 national Society for Computational Biology (ISCB).\n\nScholar Profile\n\n
 Title: "Variant Classification at Scale for Genomic Medicine of Rare Mend
 elian Disease"\n\nAbstract: Genetic diagnosis is the cornerstone of genom
 ic medicine for Mendelian disorders. It aims to identify one or a handful
  of causal variants in a patient's genome and guides treatment. However\,
  a variant's classification as pathogenic or benign is conditioned on the
  lines of available evidence supporting or refuting its disease causality
 . These lines of evidence are specified in the ACMG/AMP guidelines (and u
 pcoming SVCv4 system) that designate evidential type\, strength\, and dir
 ection\, and include a set of deterministic rules for combining evidence 
 to classify a variant. In this talk\, we will focus on coding variants an
 d describe our approaches towards scalable calibrated variant classificat
 ion to resolve a large majority of variants of uncertain significance (VU
 S). We compute the posterior probability of pathogenicity for each eviden
 ce type and subsequently combine them using a point-based system. We will
  demonstrate that the new quantitative criteria improve variant classific
 ation and discuss potential problems with dependencies and circularity in
  the system.\n\nBiography: Predrag Radivojac is a Professor of Compute\n\
 nhttp://next-to-u.app/events/c47d883d-a857-481d-95a4-e2f5b8499d17
URL:http://next-to-u.app/events/c47d883d-a857-481d-95a4-e2f5b8499d17
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