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


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

DC Field Value Language Ilyas, Muhammad ko Kim, Jong-Soo ko Cooper, Jesse ko Shin, Young-Ah ko Kim, Hak-Min ko Cho, Yun Sung ko Hwang, Seungwoo ko Kim, Hyunho ko Moon, Jaewoo ko Chung, Oksung ko Jun, JeHoon ko Rastogi, Achal ko Song, Sanghoon ko Ko, Junsu ko Manica, Andrea ko Rahman, Ziaur ko Husnain, Tayyab ko Bhak, Jong Hwa ko 2015-04-17T01:33:06Z - 2015-04-14 ko 2015-03 ko
dc.identifier.citation BMC GENOMICS, v.16, pp.172 ko
dc.identifier.issn 1471-2164 ko
dc.identifier.uri -
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 * 2015-12-28 * 2015-11-04 * 2015-11-04 *
dc.identifier.doi 10.1186/s12864-015-1290-1 ko
dc.identifier.url ko
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