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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7607710/
https://www.ncbi.nlm.nih.gov/pubmed/33138774
http://dx.doi.org/10.1186/s12881-020-01153-4

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