BEGIN:VCALENDAR
VERSION:2.0
PRODID:icalendar-ruby
CALSCALE:GREGORIAN
X-WR-CALNAME:IS&T Research Seminars: Dr. Predrag Radivojac
X-WR-TIMEZONE:Central Time (US & Canada)
BEGIN:VEVENT
DTSTAMP:20260911T113203Z
UID:tag:localist.com\,2008:EventInstance_47916326200258
DTSTART:20241114T170000Z
DTEND:20241114T180000Z
DESCRIPTION:Current ACMG/AMP guidelines for the use of sequence variants fo
 r genetic diagnosis and treatment permit the use of in silico predictors a
 s supporting evidence. These criteria\, however\, lack quantitative suppor
 t and leave clinicians and scientists without standards for applying these
  criteria\, leading to large interpretation variability. To address this\,
  we introduced a novel criterion that can be used to calibrate any computa
 tional model or any other continuous-scale evidence on any variant type. W
 e used it to estimate score intervals corresponding to the strengths of ev
 idence for pathogenicity and benignity for missense variant interpretation
  tools. We found that most tools achieved the supporting evidence level fo
 r both pathogenic and benign classification using newly established data-d
 riven thresholds. Importantly\, some in silico methods can also provide Mo
 derate and Strong evidence levels. Based on these findings\, we provided r
 ecommendations for quantitative revisions of the PP3 and BP4 criteria with
 in ACMG/AMP guidelines and the future assessment of in silico methods for 
 clinical interpretation. At the end\, we will discuss our most recent meth
 ods and findings for a formal consideration of interdependent evidence typ
 es for rare disease genetic diagnosis and population screening.\n\nLight r
 efreshments will be provided
GEO:41.24714;-96.016767
LOCATION:Peter Kiewit Institute\, PKI 158
SUMMARY:IS&T Research Seminars: Dr. Predrag Radivojac
URL;VALUE=URI:https://events.unomaha.edu/event/ist-research-seminars-dr-pre
 drag-radivojac
CATEGORIES:Lecture/Conference
CATEGORIES:Networking
END:VEVENT
END:VCALENDAR