๐ 11:00 CET
๐
March 20, 2024
๐ Online
Title: Genotyping structural variation: from simple to complex
Abstract:
Structural variants (SVs) contribute significantly to human genetic diversity, affect the risk of many complex diseases, and can be the cause of rare inherited diseases. By definition, SVs affect at least 50 base pairs of sequence and comprise many types of variants ranging from simple deletions to complex rearrangements that involve multiple DNA segments. Estimates of the number of SVs were recently corrected from thousands to tens of thousands per human genome by using long read data, which demonstrates that the majority of SVs have remained undetected in previous studies on short read data. Given that short read data is still cheaper and much more abundant than long read data, one aim of my research group is to make use of these available masses of data. In my talk I will introduce our recent work on genotyping known complex structural variants based on alignments to a linear reference genome and present considerations for a simplification to genome-graph alignments.
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Recorded Video: https://youtu.be/NKvnegY92Qo