Read medically reviewed guides, investigate the evidence behind a genetic finding, or prepare for your next research discussion.
Publisher & medical editor: Saeed Reza Ghaffari, MD, MSc, PhD · Medical Genetics Specialist
Find explanations, source material and related genetic topics.
Open tool →Build an evidence search and a checklist for discussing a result.
Open tool →Choose a region and connect to established professional directories.
Open tool →Build a literature search, explore studies and save a research brief.
Open tool →Start with the difference between a variant classification and a diagnosis. Then use the search worksheet to organize the evidence.
ACMG/AMP classification: an evidence framework, not a diagnosis generator →Open the variant worksheet →Work through endpoints, comparison groups and uncertainty before interpreting a headline. Use the paper-comparison workspace alongside your reading.
How to Read Gene Therapy Trial Results: A Step-by-Step Guide →Compare research papers →Find a condition guide and its original sources. Keep general information separate from decisions about your own care.
Familial Mediterranean fever: symptoms, MEFV testing and long-term care →Find a condition →Design research primers with Primer3, compare papers side by side, or print a worksheet for your next journal club.
A practical BRCA1 guide covering DNA repair, germline and tumor findings, uncertain variants, expert evidence and a step-by-step report-reading worksheet.
Understand Lynch syndrome genes, mismatch repair, tumor staining and germline results, with an evidence pathway and practical research checklist.
Explore LDLR function, familial hypercholesterolemia, variant evidence and test limitations, with a practical report-reading and research checklist.
Learn how to read a CFTR result: exact variant names, gene copies, evidence, test limitations and the distinction between diagnosis and treatment eligibility.
Understand sickle cell disease versus trait, HbSS and HbSC, newborn screening, inheritance, treatment research and questions for a specialist visit.
Understand cystic fibrosis symptoms, sweat testing, CFTR results and inheritance—with a clear diagnostic pathway and questions for your care team.
The language of DNA, genes, chromosomes and inheritance.
Understand genetic tests, their possibilities and their limits.
Explore methods, emerging technologies and the evidence behind discovery.
Pregnancy, childhood, inherited conditions and the diagnostic journey.
Inherited predisposition, tumour testing and the questions that connect them.
Phenotypes, variants and genomic analysis for health professionals.
A small selection of source links to explore alongside our guides. Listings are not our reporting or an endorsement of a study.
Start with a question. Explore a topic. Follow the evidence.
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