Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Work
Year: 2024
Type: article
Abstract: While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology ... more
Source: Scientific Reports
Institutions Columbia University Irving Medical Center, Päijät-Hämeen Keskussairaala, University of Helsinki, Helsinki University Hospital, Kanta-Hämeen Keskussairaala +5 more
Cites: 41
Cited by: 6
Related to: 10
FWCI: 9.62
Citation percentile (by year/subfield): 100
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
APC paid (est): $2,190
Funders National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development
Grant IDS R21 NS123325, R01 HD109342