Alban Laus Obel Slabowska

Benchmarking short-read germline structural variant calling highlights advantages of using ensembles of tools and small impact of graph genome alignment

Structural variants (SVs) in the human genome play an important role in health and disease. Identification of SVs is commonly performed using short-read sequencing. However, because sequenced fragments are typically shorter than the variants themselves, accurate SV calling remain...