OpenAlex
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
Work
Year: 2022
Type: article
Abstract: Copy number variants (CNVs) represent major etiologic factors in rare genetic diseases. Current clinical CNV interpretation workflows require extensive back-and-forth with multiple tools and databases... more
Source: Human Genetics
Authors Qiliang Ding, Cherith Somerville, Roozbeh Manshaei, Brett Trost, Miriam S. Reuter +14 more
Institutions Ted Rogers Centre for Heart Research, Hospital for Sick Children, SickKids Foundation
Cites: 46
Cited by: 3
Related to: 10
FWCI: 0.608
Citation percentile (by year/subfield): 62.19
Topic: Genomic variations and chromosomal abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
APC paid (est): $4,690