TOM 24.10.2018

Venue: Room 2013 Terkko Meilahti and Room 139 Infocenter Viikki

Timing: 16:00 onwards

Presenter: Salla Välipakka

CNV detection and annotation from NGS data

Next generation sequencing (NGS) represents a comprehensive and increasingly cost-effective approach to diagnose genetically challenging disorders. However, diagnostic efforts with these methods have so far primarily focused on single nucleotide variants (SNVs) and short insertions and deletions (indels), leaving 40% to 70% of patients undiagnosed depending on the level of prescreening. Generally, the development of bioinformatics tools for copy number variant (CNV) analysis from NGS data lags behind that for other variant types. Additionally, the annotation of CNVs remains quite laborious since the few existing CNV databases are not as comprehensive or well curated as databases for other types of variants. In this talk, I am going to present the current advances and problems in developing CNV analysis for different NGS data types with some concrete examples.