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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 497 - 510 (14page)
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India represents an amazing confluence of geographically, linguistically and socially disparate ethnic populations (Indian Genome Variation Consortium, J Genet 87:3–20, 2008). Understanding the genetic diversity of Indian population remains a daunting task. In this paper we present detailed analysis of genomic variations (high-depth coverage (~ 30×) using Illumina Hiseq 2000 platform) from three healthy Indian male individuals each belonging to three geographically delineated regions and linguistic phylum viz. high altitude region of Ladakh (Tibeto-Burman linguistic phylum), sub mountainous region of Kumaun (Indo-European linguistic phylum) and sea level region of Telangana (Dravidian linguistic phylum) for probing the extent of genetic diversity in our population. The sequencing analysis provided high quality data (~ 95% of the total reads aligned to the human reference genome for each sample) and very good alignment quality (> 80% of the filtered mapped reads had a quality score of 60). A total of 4.3, 3.7 and 4.3 million single nucleotide variations were identified in the genome of high altitude, sub mountainous and sea level respectively by comparing with human reference genome. Approximately 17.3, 18.2, 17.4% of the variants were unique in the three genomes. The study identified many novel variations in the three diverse genomes (132,970 in Ladakh, 112,317 in Kumaun and 128,881 in Telangana individual) and is an important resource for creating a baseline and a comprehensive catalogue of human genomic variation across the Indian as well as the Asian continent.
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참고문헌 (43)
참고문헌 신청
Abecasis GR / 2010 / A map of human genome variation from population-scale sequencing / Nature 467:1061~1073
Abecasis GR / 2012 / An integrated map of genetic variation from 1092 human genomes / Nature 491:56~65
Ahn SM / 2009 / The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group / Genome Res 19:1622~1629
Chambers JC / 2014 / The South Asian genome / PLoS ONE 9:e102645
Chandrasekar A / 2009 / Updating phylogeny of mitochondrial DNA macrohaplogroup M in India: dispersal of modern human in South Asian corridor / PLoS ONE 4:e7447
Abecasis GR / 2012 / An integrated map of genetic variation from 1092 human genomes / Nature 491:56~65
Ahn SM / 2009 / The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group / Genome Res 19:1622~1629
Chambers JC / 2014 / The South Asian genome / PLoS ONE 9:e102645
Chandrasekar A / 2009 / Updating phylogeny of mitochondrial DNA macrohaplogroup M in India: dispersal of modern human in South Asian corridor / PLoS ONE 4:e7447
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