Medical genetics research tools

Build PubMed and ClinicalTrials.gov searches for medical genetics, download a research brief and follow a structured paper-reading checklist.

Turn a disease, gene or genetics question into a reproducible starting search. Use the results to plan reading, identify evidence gaps and prepare a discussion with a supervisor or collaborator.

Build a literature search

Search PubMed ↗ or ClinicalTrials.gov ↗ directly.

Your starting query

Open PubMed results ↗Search study registrations ↗

PubMed filters apply only to the literature search. The study-registration link uses the condition and second concept; check recruitment status, location, eligibility and update dates on ClinicalTrials.gov. Listing is not a guarantee of suitability, safety or benefit.

From search results to a defensible answer

Define the question

State the population, exposure or intervention, comparison and outcome where relevant. Keep discovery questions separate from clinical-effectiveness questions.

Inspect the search

Open PubMed’s Search Details. Try synonyms, gene names and broader terms. Filters may omit papers that have not been indexed as expected.

Record the evidence

Capture design, sample size, follow-up, main result and uncertainty. Save citations and the date you searched.

A reusable paper-reading checklist

Question: does this study investigate the question I actually want to answer? Design: who or what was studied, and what comparison makes the result interpretable? Results: what is the effect size, precision and practical meaning, not just the p value? Limits: what bias, missing data, short follow-up or lack of replication could change the conclusion? Next step: what can I cite confidently, and what requires another source or expert review?

Useful research destinations

Gene and variant evidence

Move from a gene or variant to its evidence sources and the questions that remain unresolved.

Variant research assistant →ClinGen ↗

Clinical testing information

Explore laboratory-submitted testing information in the Genetic Testing Registry. Confirm availability, validation, accreditation and ordering requirements with the laboratory.

NCBI Genetic Testing Registry ↗

Read better, not just more

How to Read Gene Therapy Trial Results: A Step-by-Step GuideSpecialist reviewed Rare-disease trial endpoints: measure a change that mattersAwaiting specialist review Gene therapy evidence: distinguish early response from durable benefitAwaiting specialist review Single-cell genomics: more cells do not replace more participantsAwaiting specialist review Functional variant assays: abnormal biology is not automatically pathogenicityAwaiting specialist review Rare-disease data sharing: make data useful without treating access as unlimitedAwaiting specialist review

Discuss a research-support project

Send a short, non-confidential description of your question, intended output and timeframe. Scope, professional expertise, availability and any fees must be agreed before work begins.

Send a research enquiry →

Search guidance: PubMed User Guide ↗ · ClinicalTrials.gov search help ↗. No live results are copied into this tool; the named providers show their current results when you open them.

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