structural variant analysis
The clinical whole-genome sequencing and analysis firm is planning to add Oxford Nanopore long-read sequencing to all samples by the end of the year.
Long-Read Sequencing Characterizes Structural Variants in Icelandic Population
By extrapolating from long-read genome sequences from 3,622 Icelanders, researchers profiled SV alleles and associated traits or conditions in the broader population.
Pathogenic Germline Structural Variants May Be Missed by Some Testing Approaches
Researchers at Color Health reported that intronic data is needed to uncover pathogenic structural variants linked to hereditary cancers or cardiovascular disorders.
Columbia University-led Study Highlights Bionano Optical Genome Mapping Concordance with Cytogenetics
Bionano Genomics called the study, presented this week at the American College for Medical Genetics meeting, an "incredibly important milestone" for the company.
Researchers comparing structural variant detection using short- and long-read technologies said assembly-based methods can provide added value, despite missing certain CNVs.