Detect germline SNP/INDEL/SV mutations causing mendelian and rare diseases via case samples and/or family trio analysis. Interpret DNA-seq variants based on the standards and guidelines of the American College of Medical Genetics and Genomics.
Analyze patients’ tumor-normal sample pairs to discover somatic SNP/INDEL/SV/CNV mutations as a companion diagnostic device for the safe and effective use of a corresponding therapeutic product. Patient-level and population-level oncogene studies and effective diagnostics of cancer subtypes.
Genotype census variants across a cohort of multiple samples, providing a comprehensive record of every position in the genome for population joint analysis and detect low-frequency mutations.