Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

There is increasing interest in clinical genetics pertaining to the utilization of high-throughput sequencing data for accurate diagnoses of monogenic diseases. Moreover, massive whole-exome sequencing of tumors has provided significant advances in the understanding of cancer development through the recognition of somatic driver variants. To improve the… CONTINUE READING

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