Features
- Next-generation-sequencing (NGS) analysis pipeline implemented in medical genetics research
- Identification of genomic variants in the forms of SNV, Indel, CNV, SV
- Competence in calling medium / large - sized Indels, due to the integration of breakpoint identification, dosage change, and de novo assembly
- Annotation including filtering, pathogenicity evaluation, and candidate prioritization
- Compliance with the RefSeq gene model, and HGVS nomenclature
- High-resolution evaluation on experiment in terms of coverage in targeted regions
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