Poster Number
37
Poster Title
Genomic variant diversity in the Armenian population based on whole-exome sequencing analysis: preliminary results
Authors
Yeva Bareghamyan1,2, Narine Kianian1, Ani Stepanyan1, Roksana Zakharyan1,2, Andranik Chavushyan1, Gevord Martirosyan1, Gohar Mkrtchyan1, Zaruhi Khachatryan1, Anahit Hovhannisyan1, Siras Hakobyan1,, Maria Nikoghosyan1,2, Suren Davitavyan1,2, Varduhi Hayrapetyan2 , Gisane Khachatryan1,2, Tamara Sirunyan1, Arpine Minasyan1, Lilit Ghukasyan1, Lana Karapetyan2, Hovsep Ghazaryan1, Ani Melkonyan1, Karine Mayilyan1, Kristina Khanoyan1, Meline Hakobyan1, Sofi Atchemyan1, Levon Yepiskoposyan1, Arsen Arakelyan1,2
Institute of Molecular Biology, NAS RA[1]
Russian-Armenian University[2]
Institute of Molecular Biology, NAS RA[1]
Russian-Armenian University[2]
Abstract
Our study aimed to explore the genomic variability of the Armenian population by analyzing whole-exome sequences (WES) from individuals across different regions in Armenia. We used a developed bioinformatics pipeline to characterize the overall landscape of genomic variants, emphasizing those associated with genetic disorders and complex disease risks in Armenians.
We analyzed WES data from 166 healthy individuals following GATK best practices for germline variant calling. Raw Illumina sequencing reads were aligned to the human reference genome (hg38) using BWA, then converted to sorted and indexed BAM files with SAMtools. Variant calling was performed with GATK HaplotypeCaller, focusing on coding regions. Functional annotation was completed using OpenCRAVAT.
WES of 166 healthy individuals from the Armenian population yielded a total of 413,279 single nucleotide variants (SNVs). To investigate rare genetic variation, we applied a global allele frequency (AF) threshold of
We analyzed WES data from 166 healthy individuals following GATK best practices for germline variant calling. Raw Illumina sequencing reads were aligned to the human reference genome (hg38) using BWA, then converted to sorted and indexed BAM files with SAMtools. Variant calling was performed with GATK HaplotypeCaller, focusing on coding regions. Functional annotation was completed using OpenCRAVAT.
WES of 166 healthy individuals from the Armenian population yielded a total of 413,279 single nucleotide variants (SNVs). To investigate rare genetic variation, we applied a global allele frequency (AF) threshold of
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