The clinical workflow, retinoblastoma and split alignment

    Retinoblastoma is an “oma” named for its surface effect, its “presentation”:  it’s a cancer that attacks the eye. Worse, because 80% of retinoblastoma diagnoses occur before the age of 3, it’s a cancer that attacks the eyes—almost exclusively—of little children. Retinoblastoma is a “good cancer”: 90% of all RB cases survive into adulthood. … Continue reading “The clinical workflow, retinoblastoma and split alignment”

Live webinar on Copy Number Detection in Inherited Disorders and Somatic Cancer

Copy number variants constitute a significant fraction of genomic alterations responsible for cancer and various inherited disorders. In a clinical setting, performing focused NGS testing based on a panel of relevant genes is both economical and provides faster results. Thus the ability to detect CNVs from gene panel based NGS tests increases the diagnostic yield … Continue reading “Live webinar on Copy Number Detection in Inherited Disorders and Somatic Cancer”