Analysis of whole genome of indian male kashmiri pandit
By: Padh, H
.
Publisher: Mumbai Indian Journal of Pharmaceutical Science 2021Edition: Vol.83(6), Nov-Dec.Description: 1107-1113p.Subject(s): PHARMACEUTICSOnline resources: Click here
In:
Indian journal of pharmaceutical sciencesSummary: Remarkable advancement in next generation sequencing technology has made personal genome analysis
feasible and affordable. Here we present the whole genome sequence analysis of an individual from the
Kashmir region of India who is from the pandit community (IHGP04). The Indian male’s genome was
sequenced at 38.6 X coverage with a total of 110 Gb of sequence data generated using the Illumina HiSeq
2000 platform. The variant analysis revealed over 3.6 million single nucleotide variants and 5 46 681 small
insertions and deletions including about 2.7 % of novel (unreported) variants. The known variants were
analyzed for their health and disease relevance and drug pharmacogenetic profile. The mitochondrial
haplogroup (L3e2b1a1) is indicative of maternal ancestors’ arrival to the Indian subcontinent about
70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less
than 25 000 y ago. The haplogroups also suggest different routes used by the ancestors to arrive on the
subcontinent. The analysis and validation of the novel variants and relationship with health and diseases
should be the next logical step.
| Item type | Current location | Call number | Status | Date due | Barcode | Item holds |
|---|---|---|---|---|---|---|
Articles Abstract Database
|
School of Pharmacy Archieval Section | Not for loan | 2022-1219 |
Remarkable advancement in next generation sequencing technology has made personal genome analysis
feasible and affordable. Here we present the whole genome sequence analysis of an individual from the
Kashmir region of India who is from the pandit community (IHGP04). The Indian male’s genome was
sequenced at 38.6 X coverage with a total of 110 Gb of sequence data generated using the Illumina HiSeq
2000 platform. The variant analysis revealed over 3.6 million single nucleotide variants and 5 46 681 small
insertions and deletions including about 2.7 % of novel (unreported) variants. The known variants were
analyzed for their health and disease relevance and drug pharmacogenetic profile. The mitochondrial
haplogroup (L3e2b1a1) is indicative of maternal ancestors’ arrival to the Indian subcontinent about
70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less
than 25 000 y ago. The haplogroups also suggest different routes used by the ancestors to arrive on the
subcontinent. The analysis and validation of the novel variants and relationship with health and diseases
should be the next logical step.
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