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Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics

Publication in Genetics in Medicine

Published 26 March 2021

Absence of heterozygosity (AOH) is a genetic characteristic known to cause human genetic disorders through autosomal recessive or imprinting mechanisms. Low-pass genome sequencing enabled genome-wide detection of AOH at 5Mb resolution to detect clinically relevant aberrations. Our AOH detection algorithm was performed on genome sequencing data of the 1000 Genomes Project and the findings were validated against high-density chromosomal microarray. Overall, our study demonstrates the feasibility of AOH analysis (≥5 Mb) with low-pass genome sequencing data and shows high concordance compared with the gold-standard chromosomal microarray.