The words on these pages,one sentence each.
The same meanings that open as tooltips on the product pages. Each entry says what the term means in clinical genetics and links to the page where it does its work.
ACMG/AMP
The 2015 ACMG and AMP framework of evidence criteria used to classify a variant from benign to pathogenic.Where it appears: For labsBAM
A file of sequencing reads aligned to the reference genome; CRAM is its compressed form.Where it appears: For labscandidate gene
A gene proposed as a possible explanation for a patient's findings, not yet established as the cause.Where it appears: For research groupsClinGen
The Clinical Genome Resource, a curated reference of which genes and variants are clinically relevant.Where it appears: AI modelsClinVar
A public archive of variant classifications submitted by laboratories, with the evidence and the level of review behind each.Where it appears: AI modelsCRAM
A compressed file of aligned sequencing reads, smaller than BAM with the same content.Where it appears: For labsde novo
A variant present in the child and in neither parent, which usually arose newly in that child.Where it appears: For genetic counsellorsexome
Sequencing of the protein-coding parts of the genome, about one to two percent of it, where most known disease variants sit.Where it appears: How it worksFASTQ
The raw reads from a sequencer with a quality score per base, before alignment.Where it appears: For labsgene panel
A fixed set of genes analysed for one clinical question, narrower than an exome.Where it appears: How it worksgene-disease link
An established association between a gene and a condition, curated by groups such as ClinGen and recorded with its level of evidence.Where it appears: AI modelsgenome
Sequencing of all of a person's DNA, coding and non-coding regions alike.Where it appears: How it worksgnomAD
The Genome Aggregation Database: population frequencies of variants, used to judge how rare a variant is.Where it appears: AI modelsHPO
The Human Phenotype Ontology: standard terms for clinical findings, so a phenotype can be compared across patients and databases.Where it appears: How it worksknowledge release
A dated snapshot of the reference databases and literature the models read from, so every result can name what it was based on.Where it appears: What's newMDT
A multidisciplinary team meeting where clinicians, scientists and counsellors review cases together.Where it appears: For clinicianspedigree
A family tree that records relationships and who is affected, drawn in the standard clinical notation.Where it appears: For genetic counsellorsphenotype
The observable clinical findings of a patient, recorded here as HPO terms with their status.Where it appears: How it worksreanalysis
Looking at an unresolved case again when new knowledge arrives, such as a new gene-disease link or a reclassified variant.Where it appears: For research groupssecondary findings
Variants in genes unrelated to the reason for testing that a laboratory reports because they are medically actionable, following the ACMG list.Where it appears: Pricingsegregation
Whether a variant tracks with the condition through a family, which can strengthen or weaken a hypothesis.Where it appears: For genetic counsellorstrio
Sequencing of the patient and both parents together, which shows which variants were inherited and which are new.Where it appears: For labsvariant prioritisation
Ranking the variants from a sequencing run by how likely each is to explain the patient's findings, so review starts with the strongest leads.Where it appears: AI modelsVCF
Variant Call Format, the standard file that lists the variants found in a sequencing run.Where it appears: For labsVUS
A variant of uncertain significance: a change whose effect cannot yet be called benign or pathogenic on the evidence available.Where it appears: For labsStart with one casestill waiting for answers.