Table 1 Step 1: Identification of pathogenic variants and genes in the Qatari Genome.

Category	Identification of variants/genes	Variants (n)	Genes (n)
All variants/genes^a	Qatari Genome Program	94,852,664	19,965
	Weill Cornell Medicine exomes	767,957	19,385
	Weill Cornell Medicine genomes	28,331,826	18,499
	Hamad Medical Corporation	727	513
Comprehensive list	All Qatari variants/genes	104,473,390	20,069
	Single nucleotide variants	87,813,560	20,042
	Indels	16,659,829	19,898
Variants of interest for SGD research and screening	ClinVar variants/genes, including pathogenic and non-pathogenic	10,490,820	3770
	SnpEff computationally predicted pathogenic variants/genes for research	805,649	19,770
Comprehensive list^b	Qatari variants/genes of interest for SDG research and screening	207,370	3770
	Single nucleotide variants	196,855	3769
	Indels	10,515	1897

^aA list of all Qatari variants and genes was compiled from all Qatari variants and the genes responsible for these variants identified in datasets described in Supplementary Table 1.
^bThe comprehensive list of all Qatari variants of interest for research and screening in single gene (Mendelian) disorder (SGD) was compiled from the subset of the list of all Qatari variants/genes identified in ClinVar and predicted to be of high or moderate impact by SnpEff.

Quick links

Search