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DTSTAMP:20260719T204334Z
UID:5d22ec7e-f5b4-4a25-9ad4-585032869e9e
DTSTART:20250521T140000Z
DTEND:20250521T150000Z
DESCRIPTION:Massively parallel sequencing has transformed clinical medicine
  by identifying causal variants underlying rare genetic disorders\, often 
 through large gene panels or exome sequencing. While these approaches have
  enabled key diagnostic and therapeutic insights\, a majority of patients 
 with rare diseases still lack a molecular diagnosis. Genome sequencing off
 ers broader variant detection capabilities\, including structural and deep
  intronic variants\, with improved coverage uniformity. However\, the incr
 emental diagnostic yield and clinical impact of genome sequencing remain u
 ncertain. Through the Broad Center for Mendelian Genomics and the Rare Gen
 omes Project\, we analyzed over 8\,000 families with suspected monogenic d
 iseases\, evaluating genome sequencing’s effectiveness where exome seque
 ncing fell short. Our findings\, further tested in an independent clinical
  cohort\, provide insights into the specific advantages of genome sequenci
 ng and its potential for improving rare disease diagnosis. This talk will 
 explore the key features that drive successful diagnoses and the broader i
 mplications for genomic medicine.
SUMMARY:GHGA Lecture Series on Genome sequencing for rare disease diagnosti
 cs
URL;VALUE=URI:https://www.ghga.de/events/detail/ghga-lecture-series-rami-ab
 ou-jamra-virtual
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