Genome-wide assessment of rare protein-coding variants identifies associations with non-syndromic cleft lip/palate.
Rare genetic variants contribute to common birth defects, improving understanding of disease causes and genetic counseling.
Using exome-scale rare variant analysis, this study identified novel rare protein-coding variant associations with non-syndromic OFC, a common congenital anomaly with incompletely explained genetic architecture. Findings complement GWAS-identified common variants and inform genetic counseling by expanding the rare variant contribution to OFC etiology.
What the study was
- Study design
- Genome-wide rare variant association study
- Category
- Other
- Maturity
- Validated
- Journal
- Eur J Hum Genet
Why it surfaced
EJHG publication; rare variant genome-wide analysis for a common congenital birth defect; relevant to rare disease genetics watchlist; adds to diagnostic variant repertoire for OFC genetic counseling.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.