MERAP

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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