Nature

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

Cockayne syndrome (CS), first described in 1936 1, is a rare autosomal recessive (AR) disorder characterized by failure to thrive, developmental delay, and microcephaly, along with at least three of ...
Nature

Comparative study of tools for copy number variation detection using next-generation sequencing data

Copy number variation (CNV) plays an important role in disease susceptibility as a type of intermediate-scale structural variation (SV). Accurate CNV detection is crucial for understanding human ...
Business Wire

Variantyx Expands Its Reproductive Health Offerings with Launch of a Direct Replacement for Chromosomal Microarray Analysis

FRAMINGHAM, Mass.--(BUSINESS WIRE)--Variantyx, a leader in genomic precision medicine, today announced the launch of its IriSight™ CNV Analysis - a whole genome-based test for the detection of ...