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Sequencing and analysis of the whole genome of Indian Gujarati male

Almal, Suhani, Jeon, Sungwon, Agarwal, Milee, Patel, Sweta, Patel, Shivangi, Bhak, Youngjune, Jun, JeHoon, Bhak, Jong, Padh, Harish
Genomics 2019 v.111 no.2 pp. 196-204
DNA, Y chromosome, databases, genetic variation, genome, humans, males, mitochondria, sequence analysis, Africa, Central European region, India
The article presents the analysis of whole genome sequence of a Gujarati Indian individual (IHGP01) that was sequenced at 23.05× coverage with a total of 74.93 Gb of sequence data generated using Illumina HiSeq 2000 platform. Variant analysis revealed over 3.9 million single nucleotide variants (SNVs) and about 393,000 small insertions and deletions (InDels) including novel variants. The known variants were analyzed for their health and disease relevance and pharmacogenomic profile. Mitochondrial and Y-chromosome haplogroup analysis clearly indicated arrival on the continent not more than 20,000–25,000 years ago, following the route out of Africa to central Europe, then into Asian continent and subsequent migration to West part of the Indian subcontinent. The current research has added 141,000 novel genetic variations to the human DNA database. Functional analysis and validation of these novel variations and revelation of their role in health and disease will add a newer dimension to understand people of this subcontinent.