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PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

Iria Roca1, Lorena González-Castro2, Joan Maynou3

  • 1University of Santiago de Compostela (USC), Spain. Genomes and Disease Group, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Santiago de Compostela, Spain; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases (UDyTEMC) from Pediatric Department, Hospital Clínico Universitario de Santiago de Compostela, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Spain.

Genomics
|July 27, 2019
PubMed

Keywords:
CNV detectionDeletionDuplicationGene panels

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