Back to blog homeSeries
One topic, across multiple articles.
Sanger Family Testing GuideExplaining how variants found in a genetic test are confirmed through family testing. It covers why family testing is needed, which variants Sanger sequencing can and cannot confirm, and how to read the variant information on a report.4 articles
Secondary Findings SeriesA step-by-step guide to secondary findings — the medically actionable results a test uncovers beyond its original purpose.3 articles
Meet the ClinicianInterviews with clinicians on the front line of rare disease care, on diagnostic journeys and genetic testing.6 articles
Solving Undiagnosed Cases with Long-Read SequencingReal cases where long-read sequencing recovered the variants short-read missed, reviewed study by study.1 article
Interpretation NotesNotes from our analysts on the criteria and reasoning behind real variant interpretation decisions.3 articles
Variant Interpretation SeriesAn in-depth look at variant classification, from ACMG/AMP guidelines to how far a VUS can be interpreted.2 articles