press_release_conclusion: Large areas of medically important genes fall within troublesome regions of the human genome, where it is currently difficult to obtain accurate sequence information, according to research published in the open access journal Genome Medicine. On average, one fifth of each of these medically important genes is challenging for today’s gene sequencing methods to decipher, and the information in these gene regions may be key to a patient’s diagnosis or treatment plan.
abstract_conclusion: We observe that the accuracy of a variant call depends on the genomic region, variant type, and read depth, and varies by analytical pipeline.