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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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dc.contributor.author Ilyas, Muhammad ko
dc.contributor.author Kim, Jong-Soo ko
dc.contributor.author Cooper, Jesse ko
dc.contributor.author Shin, Young-Ah ko
dc.contributor.author Kim, Hak-Min ko
dc.contributor.author Cho, Yun Sung ko
dc.contributor.author Hwang, Seungwoo ko
dc.contributor.author Kim, Hyunho ko
dc.contributor.author Moon, Jaewoo ko
dc.contributor.author Chung, Oksung ko
dc.contributor.author Jun, JeHoon ko
dc.contributor.author Rastogi, Achal ko
dc.contributor.author Song, Sanghoon ko
dc.contributor.author Ko, Junsu ko
dc.contributor.author Manica, Andrea ko
dc.contributor.author Rahman, Ziaur ko
dc.contributor.author Husnain, Tayyab ko
dc.contributor.author Bhak, Jong Hwa ko
dc.date.available 2015-04-17T01:33:06Z -
dc.date.created 2015-04-14 ko
dc.date.issued 2015-03 ko
dc.identifier.citation BMC GENOMICS, v.16, pp.172 ko
dc.identifier.issn 1471-2164 ko
dc.identifier.uri https://scholarworks.unist.ac.kr/handle/201301/11284 -
dc.description.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 ko
dc.description.statementofresponsibility open -
dc.language 영어 ko
dc.publisher BIOMED CENTRAL LTD ko
dc.title Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan ko
dc.type ARTICLE ko
dc.identifier.scopusid 2-s2.0-84928731182 ko
dc.identifier.wosid 000351035600001 ko
dc.type.rims ART ko
dc.description.wostc 0 *
dc.description.scopustc 0 *
dc.description.scopustc 0 *
dc.date.tcdate 2015-12-28 *
dc.date.scptcdate 2015-11-04 *
dc.date.scptcdate 2015-11-04 *
dc.identifier.doi 10.1186/s12864-015-1290-1 ko
dc.identifier.url http://www.biomedcentral.com/1471-2164/16/172 ko
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