TY - JOUR T1 - A bioinformatic panel to interrogate thousands of ExAC variants with minor reference allele that are missed by conventional variant calling JF - bioRxiv DO - 10.1101/093450 SP - 093450 AU - Mahmoud Koko AU - Mohammed O. E. Abdallah AU - Mutaz Amin AU - Muntaser Ibrahim Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/12/12/093450.abstract N2 - In variation sites with minor reference alleles, overlooking the detection of homozygous reference genotypes results in inadequate identification of potential disease variants. Current variant calling practices miss these clinically relevant alleles warranting new approaches. More than 26,000 Eome Aggregation Consortium (ExAC) variants have a minor reference allele including 44 variants with known ClinVar disease alleles. We demonstrated how the current variant calling standards miss homozygous reference disease variants in these sites. We developed a bioinformatic panel that can be used to screen these variants using commonly available variant callers. We provide here a simple strategy to screen potential disease-causing variants when present in homozygous reference state. ER -