NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

BACKGROUND: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). METHODS: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Singh, Kanika, Bijarnia-Mahay, Sunita, Ramprasad, V. L., Puri, Ratna Dua, Nair, Sandhya, Sharda, Sheetal, Saxena, Renu, Kohli, Sudha, Kulshreshtha, Samarth, Ganguli, Indrani, Gujral, Kanwal, Verma, Ishwar C.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7607710/
https://ncbi.nlm.nih.gov/pubmed/33138774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01153-4
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