SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

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Authors: Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley & Peter N. Robinson

Journal title: Genome Medicine

Journal publisher: BioMed Central

Published year: 2022

DOI identifier: 10.1186/s13073-022-01046-6

ISSN: 1756-994X