Article

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

2020-10-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).<bold>Methods: </bold>After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per...

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Literature Corpus work: 1dbe2032-1876-5893-822c-f16c88d14c60
DOI: 10.21203/rs.3.rs-23712/v7

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