Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry

BMC Genomics
Gaurav TharejaOsama Alsmadi

Abstract

The 1000 Genome project paved the way for sequencing diverse human populations. New genome projects are being established to sequence underrepresented populations helping in understanding human genetic diversity. The Kuwait Genome Project an initiative to sequence individual genomes from the three subgroups of Kuwaiti population namely, Saudi Arabian tribe; "tent-dwelling" Bedouin; and Persian, attributing their ancestry to different regions in Arabian Peninsula and to modern-day Iran (West Asia). These subgroups were in line with settlement history and are confirmed by genetic studies. In this work, we report whole genome sequence of a Kuwaiti native from Persian subgroup at >37X coverage. We document 3,573,824 SNPs, 404,090 insertions/deletions, and 11,138 structural variations. Out of the reported SNPs and indels, 85,939 are novel. We identify 295 'loss-of-function' and 2,314 'deleterious' coding variants, some of which carry homozygous genotypes in the sequenced genome; the associated phenotypes include pharmacogenomic traits such as greater triglyceride lowering ability with fenofibrate treatment, and requirement of high warfarin dosage to elicit anticoagulation response. 6,328 non-coding SNPs associate with 811 phenotype ...Continue Reading

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Jul 10, 2016·Gene·Hatem Zayed
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Datasets Mentioned

BETA
SRX535330

Methods Mentioned

BETA
genotyping
Chip
chips
Assay

Software Mentioned

SAMtools
tree
SIFT
PHYLIP
HugeSeq
Annovar
BEDTools
RepeatMasker
Internet Explorer
Picard

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