Article
ConsCal: A tool to aid medical genetics professionals in consanguineous populations.
American journal of medical genetics. Part A - 1 Aug 2023
Alkuraya Imen F
Abstract excerpt
Consanguineous populations have a higher frequency of autosomal recessive diseases when compared to the rest of the world. This frequency is high enough that families in these populations may even have multiple autosomal recessive diseases. The recurrence risk calculation for the various combinations becomes increasingly more difficult as more recessive diseases are encountered in a family. Another challenge in...
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