Qatari type 2 diabetes (T2D) at-risk genes identified by sequence kernel association test (SKAT) of low-frequency potentially deleterious protein coding single nucleotide polymorphisms (SNP)1.
We collected blood samples from all six affected individuals and two unaffected family members. Whhole-exome sequencing was performed for the eight family members and the candidate variant was obtaine
Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as
Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although contribution of genetic variation and environmental factors to microtia
Abbreviations: MAF, minor allele frequency; OR, odds ratio; SNP, single nucleotide polymorphism. *Genes with P-value <0.05 are listed and ordered by P-values. Gene-level P-values were calculated using
