The Agilent SureSelect Clinical Research Exome V4 (CRE V4) has been designed to provide comprehensive coverage of human protein-coding regions, as well as clinically relevant content. CRE V4 leverages valuable insights and discoveries from the genome to create an exome that bridges the gap between whole-exome sequencing and whole-genome sequencing, with unique features such as curated deep intronic sites, mini-genomes, and enhanced coverage of more than 6,500 disease-associated genes. Thoughtfully curated by world-renowned clinical molecular geneticist Dr. Madhuri Hegde, Ph.D., FACMG, formerly of Emory University, CRE V4 provides excellent coverage of targeted non-coding pathogenic sites from ClinVar, HGMD, and ACMG, ancestry single nucleotide variants (SNPs), pharmacogenomic SNPs, a unique design to detect common disease-causing CNVs using a breakpoint detection approach, and other expertly curated disease-relevant content.
SureSelect Clinical Research Exome
Бренд: Agilent Technologies
Список продуктов
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