SCIENCE / REVIEWS

We review full chains of evidence—not famous genes.

Focused scientific reviews explain what a study found, how a result was measured, where it applies and where marketing overreach begins.

VARIANT REFERENCE

Check a designation against the local reference—without uploading a file.

The lookup uses only an editorially selected local ClinVar snapshot: the entered value is not sent to the controller or an external service. Germline classification, somatic clinical impact and oncogenicity are shown separately.

EXAMPLES

No name, contact details or files are requested. The designation is not written to the URL, cookies, local storage or analytics, sent to the controller’s server, or transmitted to NCBI. Do not enter names, test identifiers, report text, a child’s data or another person’s information. The local snapshot contains a limited record set; no match says nothing about a variant’s significance.

CLINVAR / LOCAL SNAPSHOT

Public record—not test interpretation

A ClinVar match does not confirm that your laboratory identified the variant correctly. Do not change testing, prevention or treatment without clinical confirmation and a qualified professional.

Snapshot source: NCBI ClinVar, U.S. National Library of Medicine / NIH. Source attribution does not imply U.S. Government endorsement of this project.

NCI GDC · DR 46.0

Tumour-cohort research context.

Compare cohort size, open SSM-data coverage, observations for a selected gene and file-access class—without personal prognosis or treatment selection.

Open GDC context

SCIENCE REVIEWS

A library of methods, traits and clinical contexts.

01 · Choosing a test

Genetic testing: what it can show, major types and how to choose

A useful test starts with a precise question, not the largest gene count. This guide explains test types, methods, limitations and how to check claims before purchase.

12 min
02 · Understanding results

How to read a genetic test result: pathogenic variants, VUS and negative findings

‘Positive’, ‘negative’ and ‘uncertain’ do not mean the same thing across genetic tests. First reconstruct the question, method and report boundaries.

11 min
03 · Molecular oncology

From specimen to treatment discussion: reading a tumour molecular report

A mutation list is not a clinical conclusion. A reliable report connects specimen quality, assay capability, the exact finding, evidence level and patient context.

9 min
04 · Inherited risk

Germline testing and tumour profiling: two tests that must not be conflated

One test looks for inherited predisposition across the body; the other looks for acquired changes in a particular tumour. They can overlap but answer different questions.

7 min
05 · Phenotypic traits

Eye colour, height, taste, sport and personality: what DNA can really suggest

Popular traits span a spectrum—from a narrow, large-effect ABCC11 trait to thousands of height variants and very weak individual personality prediction.

11 min
06 · Genetic methods

From PCR to whole genomes: what each method can detect

A ‘genetic test’ is not one machine. A point variant, repeat expansion, deletion, fusion and methylation change require different methods and quality controls.

14 min
07 · Cancer genomics

Why test a tumour genome—and when it can change treatment

Molecular analysis does not seek abstract ‘cancer mutations’; it seeks testable biomarkers of sensitivity, resistance, inherited risk and research hypotheses.

18 min

METHOD

How evidence enters the atlas.

We assess relationship validity, effect size, clinical actionability and the ability of a specific test to detect the relevant variant separately.

01

Validity

How reliable is the relationship?

02

Effect

How much does risk or function change?

03

Action

Is there a safe next step?

04

Detection

Can this test detect what matters?

EDITORIAL PIPELINE

Six gates before publication.

01

Specify the claim

Not a ‘cancer gene’, but an exact link: variant or variant class—condition—inheritance—population.

02

Assess validity

Use expert curation, clinical guidelines, systematic reviews and reproducible primary studies.

03

Separate effect from action

A strong association does not automatically change prevention, diagnosis or treatment.

04

Check detectability

SNP arrays, sequencing, repeat-expansion assays, CNV analysis and HLA typing detect different variant classes.

05

State the limit

Explain a negative result and where ancestry, age, family, environment and clinical data matter.

06

Version the record

Every card gets a review date, change history, sources, reviewers and conflict-of-interest declarations.

FORBIDDEN SHORTCUTS

Phrases you will not see here.

  • ‘You have the cancer gene’
  • ‘The test predicts how long you will live’
  • ‘DNA reveals your personality’
  • ‘A negative test rules out inherited disease’
  • ‘A VUS is probably dangerous’
  • ‘Change your medicine based on this result’

CORE RESOURCES

Check the source.

The ACMG Secondary Findings list is a minimum list for secondary findings in clinical sequencing, not a population-screening programme. Local guidelines and regulations must still be checked.