Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.

doi:10.1016/j.jmoldx.2024.03.005

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Article

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.

The Journal of molecular diagnostics : JMD - 1 Jun 2024

Duraisamy Arul J, Liu Ruby, Sureshkumar Shruti, Rose Rajiv, Jagannathan Lakshmanan, da Silva Cristina, Coovadia Adam, Ramachander Vinish, Chandrasekar Sathyapriya, Raja Indu, Sajnani Manisha, Selvaraj Sreekanth M, Narang Bhuvandeep, Darvishi Katayoon, Bhayal Amar C, Katikala Lavanya, Guo Fen, Chen-Deutsch Xiangwen, Balciuniene Jorune, Ma Zeqiang, Nallamilli Babi R R, Bean Lora, Collins Christin, Hegde Madhuri

Abstract excerpt

The genetically isolated yet heterogeneous and highly consanguineous Indian population has shown a higher prevalence of rare genetic disorders. However, there is a significant socioeconomic burden for genetic testing to be accessible to the general population. In the current study, we analyzed next-generation sequencing data generated through focused exome sequencing from individuals with different phenotypic...

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PMID: 38582400
DOI: 10.1016/j.jmoldx.2024.03.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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