Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions
- PMID: 39669633
- PMCID: PMC11613865
- DOI: 10.1016/j.gimo.2024.101881
Using genomic databases to determine the frequency and population-based heterogeneity of autosomal recessive conditions
Keywords: Disease prevalence; Genetic epidemiology; Mendelian disorders; Recessive; Sequence database.
Conflict of interest statement
William B. Hannah was a consultant for PTC Therapeutics and ReCode Therapeutics. Mitchell L. Drumm has no disclosures relevant to the manuscript. Keith Nykamp is an employee and stockholder of Invitae Corporation. Tiziano Pramparo was a full-time employee of Travere Therapeutics, Inc at the time of manuscript development and submission and may have an equity or other financial interest in Travere Therapeutics, Inc. Robert D. Steiner is a consultant for Leadiant, Mirum, and PTC Therapeutics. Robert D. Steiner is an employee with equity of PreventionGenetics, part of Exact Sciences. Steven J. Schrodi has no disclosures relevant to the manuscript.
References
-
- Weinberg W. Über den Nachweis der Vererbung beim Menchen. Verein f vaterl Naturk in Württemberg. 1908;64:369–382.
Publication types
LinkOut - more resources
Full Text Sources
