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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MERAP Web Site