สืบค้นงานวิจัย
Copy number variation in Thai population
Suktitipat B. - ไม่ระบุหน่วยงาน
ชื่อเรื่อง (EN): Copy number variation in Thai population
ผู้แต่ง / หัวหน้าโครงการ (EN): Suktitipat B.
บทคัดย่อ (EN): Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation. CNVs from general population in currently available databases help classify CNVs of uncertain clinical significance, and benign CNVs. Earlier studies of CNV distribution in several populations worldwide showed that a significant fraction of CNVs are population specific. In this study, we characterized and analyzed CNVs in 3,017 unrelated Thai individuals genotyped with the Illumina Human610, Illumina HumanOmniexpress, or Illumina HapMap550v3 platform. We employed hidden Markov model and circular binary segmentation methods to identify CNVs, extracted 23,458 CNVs consistently identified by both algorithms, and cataloged these high confident CNVs into our publicly available Thai CNV database. Analysis of CNVs in the Thai population identified a median of eight autosomal CNVs per individual. Most CNVs (96.73%) did not overlap with any known chromosomal imbalance syndromes documented in the DECIPHER database. When compared with CNVs in the 11 HapMap3 populations, CNVs found in the Thai population shared several characteristics with CNVs characterized in HapMap3. Common CNVs in Thais had similar frequencies to those in the HapMap3 populations, and all high frequency CNVs (>20%) found in Thai individuals could also be identified in HapMap3. The majorities of CNVs discovered in the Thai population, however, were of low frequency, or uniquely identified in Thais. When performing hierarchical clustering using CNV frequencies, the CNV data were clustered into Africans, Europeans, and Asians, in line with the clustering performed with single nucleotide polymorphism (SNP) data. As CNV data are specific to origin of population, our population-specific reference database will serve as a valuable addition to the existing resources for the investigation of clinical significance of CNVs in Thais and related ethnicities. © 2014 Suktitipat et al.
บทคัดย่อ: ไม่พบข้อมูลจากหน่วยงานต้นทาง
ภาษา (EN): en
เอกสารแนบ (EN): https://www.scopus.com/inward/record.uri?eid=2-s2.0-84905967844&doi=10.1371%2fjournal.pone.0104355&partnerID=40&md5=1a83f691a50274a43c3371ade4067d7d
เผยแพร่โดย (EN): มหาวิทยาลัยมหิดล
คำสำคัญ (EN): Thailand
เจ้าของลิขสิทธิ์ (EN): มหาวิทยาลัยมหิดล
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Suktitipat B.. "Copy number variation in Thai population". ไม่ระบุหน่วยงาน. ม.ป.ป.

Suktitipat B.. "Copy number variation in Thai population". ไม่ระบุหน่วยงาน. ม.ป.ป.. Print.



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Copy number variation in Thai population
Suktitipat B.
มหาวิทยาลัยมหิดล
ไม่ระบุวันที่เผยแพร่
Population structure shapes copy number variation in malaria parasites Lifestyle behaviors and serum vitamin C in the thai population in Bangkok metropolitan Modulation of malaria phenotypes by pyruvate kinase (pklr) variants in a Thai population Chromosome number variation and polyploidy in 19 Kaempferia (Zingiberaceae) taxa from Thailand and one species from Laos Comparing phenotypic variation of root traits in Thai rice (Oryza sativa L.) across growing systems TISTR_RailwaySystemAlliance_(Thai) Thai Open GLAM Associations between urinary excretion of cadmium with alpha-1 microglobulin and microalbuminuria: a cross-sectional study in northwestern Thai population Population dynamics of a reintroduced population of captive-raised gibbons (Hylobates lar) on Phuket, Thailand Accelerated training of skilled birth attendants in a marginalized population on the Thai-myanmar border: A multiple methods program evaluation
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