Genetic & Genomic MedicinemedRxivPreprint
Low-coverage genome sequencing for the detection of clinically relevant copy-number and mtDNA variants
Sander Pajusalu, Mikk Tooming, Kaisa Teele Oja…·Katrin Õunap
This study evaluates if low-coverage genome sequencing can detect clinically relevant copy-number and mtDNA variants, finding that 2x coverage is sufficient for most cases.
DOI 10.1101/2022.09.20.22280155