Find in Library
Search millions of books, articles, and more
Indexed Open Access Databases
TT-Mars: structural variants assessment based on haplotype-resolved assemblies
oleh: Jianzhi Yang, Mark J.P. Chaisson
Format: | Article |
---|---|
Diterbitkan: | BMC 2022-05-01 |
Deskripsi
Abstract Variant benchmarking is often performed by comparing a test callset to a gold standard set of variants. In repetitive regions of the genome, it may be difficult to establish what is the truth for a call, for example, when different alignment scoring metrics provide equally supported but different variant calls on the same data. Here, we provide an alternative approach, TT-Mars, that takes advantage of the recent production of high-quality haplotype-resolved genome assemblies by providing false discovery rates for variant calls based on how well their call reflects the content of the assembly, rather than comparing calls themselves.