Health AI Central
Share:
Peer-Reviewed Publication
Hum Genomics2023;17(1):30.March 28, 2023Journal Article

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

Yaron Einhorn1, Moshe Einhorn1, Alina Kurolap2, Dror Steinberg1, Adi Mory2, Lily Bazak3, Tamar Paperna4, Julia Grinshpun-Cohen5, Lina Basel-Salmon3,6, Karin Weiss4,7, Amihood Singer5, Yuval Yaron2,6, Hagit Baris Feldman8,9
1Genoox, Tel Aviv, Israel.
2The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, 6 Weizmann St., Tel Aviv, Israel.
3Beilinson Hospital, Rabin Medical Center, Recanati Genetics Institute, Petah Tikva, Israel.
4Rambam Health Care Campus, The Genetics Institute, Haifa, Israel.
5Community Genetic Services, Ministry of Health, Tel Aviv, Israel.
6Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
7The Ruth and Bruce Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
8The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, 6 Weizmann St., Tel Aviv, Israel. hagitbf@tlvmc.gov.il.
9Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. hagitbf@tlvmc.gov.il.
PubMed PMC DOI PDF

Abstract

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. We aimed to demonstrate a community data-driven approach to creating a pan-ethnic carrier screening p…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free AccountSign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.