Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder variants (PFVs) that are unique to specific ethnic groups. W...

Descripción completa

Detalles Bibliográficos
Autores principales: Einhorn, Yaron, Einhorn, Moshe, Kurolap, Alina, Steinberg, Dror, Mory, Adi, Bazak, Lily, Paperna, Tamar, Grinshpun-Cohen, Julia, Basel-Salmon, Lina, Weiss, Karin, Singer, Amihood, Yaron, Yuval, Baris Feldman, Hagit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10044388/
https://www.ncbi.nlm.nih.gov/pubmed/36978159
http://dx.doi.org/10.1186/s40246-023-00472-w

Ejemplares similares

Ejemplares similares