Paper Details

Paper Title

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

Paper Journal Title

Genome Med

Paper Citation Count

Paper Publication Year

2022

Bio Mention

Mendelian diseases, SVs, regulatory sequences, regulatory structural variants, transcripts

Mesh Descriptor

Base Sequence, Chromosome Mapping, Genomics, Humans, Sequence Analysis, DNA, Virulence

Author Name	Affiliation
Daniel Danis
Julius O B Jacobsen	William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Parithi Balachandran
Qihui Zhu
Feyza Yilmaz
Justin T Reese	Lawrence Berkeley National Laboratory
Matthias Haimel	Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
Matthias Haimel	St. Anna Children's Cancer Research Institute
Matthias Haimel	CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences
Matthias Haimel
Gholson J Lyon	New York State Institute for Basic Research in Developmental Disabilities
Gholson J Lyon	The City University of New York
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	Children's Hospital of Philadelphia
Ingo Helbig	University of Pennsylvania
Christopher J Mungall	Lawrence Berkeley National Laboratory
Christopher J Mungall	Lawrence Berkeley National Laboratory
Christine R Beck
Christine R Beck	University of Connecticut Health Center
Christine R Beck	Institute for Systems Genomics, University of Connecticut
Charles Lee
Damian Smedley	William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Peter N Robinson
Peter N Robinson	University of Connecticut Health Center

Column Actions