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Bhak, Jong
KOrean GenomIcs Center(KOGIC)
Research Interests
  • Geromics, genomics, bioinformatics, protein Engineering, OMICS

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan

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Title
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan
Author
Ilyas, MuhammadKim, Jong-SooCooper, JesseShin, Young-AhKim, Hak-MinCho, Yun SungHwang, SeungwooKim, HyunhoMoon, JaewooChung, OksungJun, JeHoonRastogi, AchalSong, SanghoonKo, JunsuManica, AndreaRahman, ZiaurHusnain, TayyabBhak, Jong Hwa
Issue Date
2015-03
Publisher
BIOMED CENTRAL LTD
Citation
BMC GENOMICS, v.16, pp.172
Abstract
Background: Pakistan covers a key geographic area in human history, being both part of the Indus River region that acted as one of the cradles of civilization and as a link between Western Eurasia and Eastern Asia. This region is inhabited by a number of distinct ethnic groups, the largest being the Punjabi, Pathan (Pakhtuns), Sindhi, and Baloch. Results: We analyzed the first ethnic male Pathan genome by sequencing it to 29.7-fold coverage using the Illumina HiSeq2000 platform. A total of 3.8 million single nucleotide variations (SNVs) and 0.5 million small indels were identified by comparing with the human reference genome. Among the SNVs, 129,441 were novel, and 10,315 nonsynonymous SNVs were found in 5,344 genes. SNVs were annotated for health consequences and high risk diseases, as well as possible influences on drug efficacy. We confirmed that the Pathan genome presented here is representative of this ethnic group by comparing it to a panel of Central Asians from the HGDP-CEPH panels typed for similar to 650 k SNPs. The mtDNA (H2) and Y haplogroup (L1) of this individual were also typical of his geographic region of origin. Finally, we reconstruct the demographic history by PSMC, which highlights a recent increase in effective population size compatible with admixture between European and Asian lineages expected in this geographic region. Conclusions: We present a whole-genome sequence and analyses of an ethnic Pathan from the north-west province of Pakistan. It is a useful resource to understand genetic variation and human migration across the whole Asian continent
URI
https://scholarworks.unist.ac.kr/handle/201301/11284
URL
http://www.biomedcentral.com/1471-2164/16/172
DOI
10.1186/s12864-015-1290-1
ISSN
1471-2164
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BME_Journal Papers
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