Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01179-5.pdf
Reference45 articles.
1. Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet. 2019;20:549–61.
2. Committee Opinion No. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129:e41–e55.
3. Lazarin GA, Goldberg JD. Current controversies in traditional and expanded carrier screening. Curr Opin Obstet Gynecol. 2016;28:136–41.
4. Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenat Diagn. 2015;35:931–5.
5. Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, et al. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. BMC Med Genet. 2020;21:216.
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