Article
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2016
Abouelhoda Mohamed, Sobahy Turki, El-Kalioby Mohamed, Patel Nisha, Shamseldin Hanan, Monies Dorota, Al-Tassan Nada, Ramzan Khushnooda, Imtiaz Faiqa, Shaheen Ranad, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Most autosomal recessive diseases are rare, but they collectively account for a substantial proportion of disease burden, especially in consanguineous populations. Estimation of this disease burden, however, is hampered by many factors, including lack of countrywide registries. Establishing carrier frequency can be a practical surrogate to estimate disease burden, although the requirement of a large...
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