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Sequencing and comparative genome analysis of three Indians

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A Correction to this article was published on 20 June 2021

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Abstract

Remarkable advancement in DNA sequencing (NGS) technology has made personal genome analysis feasible and affordable. Here we present the whole genome sequencing and analysis of three individuals, two males and one female, from different parts of India. Comparison with the Reference Human Genome and the variant database showed a total of 4.0–4.85 million variants, primarily single nucleotide variants (SNVs), 350-600 K small insertions and deletions (INDELs), and previously unreported novel variants. The analysis of Y-chromosome and mitochondrial haplogroups revealed that the ancestors of the individual arrived on the subcontinent at very different times using distinctly different migration routes. Approximately, 500,000 novel SNPs and about 89,000 novel INDELs have been submitted to the NCBI as novel variants. PCA and Admix analysis revealed that the IHGP03, a Mizoram male from the Northeast region, is strikingly different from the other two Indian genomes. Collectively, the data suggest the complexity of the Indian population admix developed from several distinct waves of human migration over tens of thousands of years.

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Change history

  • 15 June 2021

    The original online version of this article was revised: The reference citations has been incorrectly placed under the introduction section instead of numerical bullet points. The numerical bullet points has been placed correctly now.

  • 20 June 2021

    A Correction to this paper has been published: https://doi.org/10.1007/s00335-021-09886-0

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Acknowledgements

The author is indebted for the initial technical assistance from Suhani Almal, Milee Agarwal, Sweta Patel, and Shivangi Patel: from B. V. Patel PERD Center, Ahmedabad. For the initial analysis of the genomic data, the author is thankful to Kyusang Lee and Jong Bhak: from The Genomics Institute, Republic of Korea. The financial assistance from the Gujarat State Biotechnology Mission, Government of Gujarat is gratefully acknowledged.

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  1. Former Vice-Chancellor, Sardar Patel University, Vallabh Vidyanagar, Gujarat, 388120, India

    Harish Padh

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Padh, H. Sequencing and comparative genome analysis of three Indians. Mamm Genome 32, 401–412 (2021). https://doi.org/10.1007/s00335-021-09882-4

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