1
- 100,000 Genomes Project
a
- Acrocentric
- Adenine
- Alignment
- Allele
- Alternative splicing
- Amino acids
- Amniocentesis
- Aneuploidy
- Artefact (genetics)
- Assembly
- Autoimmune condition
- Autosomal dominant
- Autosomal dominant condition
- Autosomal inheritance
- Autosomal recessive condition
- Autosomes
b
- Balanced translocation
- Base pairs
- Bases
- Bioinformatician
- Biomedical scientist
- Bone marrow
- BRCA genes
- BRCA1
- BRCA2
c
- Cancer
- Carrier
- Cell
- Cell cycle
- Cell division
- Cell-free fetal DNA
- Cell membrane
- Cellular differentiation
- Cellular proliferation
- Cellular transformation
- Cellularity
- Centromere
- CFTR gene
- Chemotherapy
- Chorionic villus sampling
- Chromatid
- Chromosomal condition
- Chromosome
- Clinical exome
- Clinical geneticist
- Clonal
- Codon
- Congenital anomalies
- Copy number variants
- CRISPR
- Cytoplasm
- Cytosine
d
- Daughter cells
- De novo variant
- Deletions
- Deoxyribonucleic acid (DNA)
- Deoxyribose
- Diagnostic genomic test
- Diagnostic odyssey
- Digenic
- Diploid
- Direct-to-consumer testing
- Disease-modifying variants
- DNA ligase
- DNA polymerase
- Dominant allele
- Dominant phenotype
- Double helix
- Duplication
e
- EGFR inhibitor
- Egg (gamete)
- Encode
- Enzyme
- Epigenetics
- Eukaryote
- Exome
- Exons
f
- False negative
- Family history
- Fertilisation
- First degree relative
- Fluorescent in situ hybridisation
- Frameshift variant
g
- Gamete
- Gene
- Gene agnostic analysis
- Gene expression
- Gene therapy
- Genetic condition
- Genetic counselling
- Genetic/genomic variation
- Genetic heterogeneity
- Genetics
- Genome
- Genome editing
- Genome-wide association study
- Genomic medicine
- Genomics
- Genotype
- Genotype-phenotype correlation
- Germ cells
- Germline
- Germline cells
- Germline variant
- Germline variation
- Guanine
h
- Haemoglobin
- Haploid
- Haplotype
- Heterozygous
- Homologous chromosomes
- Homozygous
- Human Genome Project
- Human Phenotype Ontology
- Hybridisation
i
- In vitro fertilisation
- Incidental findings
- Infectious disease
- Infectious organism
- Inherited condition
- Initiation codon
- Interphase
- Introns
k
- Karyotype
- Karyotyping
l
- Locus
- Long-read sequencing
m
- Massively parallel sequencing
- Mature mRNA
- Megabase
- Meiosis
- Messenger RNA
- Metabolomics
- Methylation
- Microarray
- Microbiome
- Microbiota
- Micro-organisms
- Missense variant
- Mitochondria
- Mitosis
- Monosomy
- Mosaicism
- Multidisciplinary team
- Multifactorial condition
- Multifactorial inheritance
- Mutation
n
- National Genomic Research Library
- National Genomic Test Directory
- Newborn screening
- Next-generation sequencing
- Non-coding DNA
- Non-invasive prenatal diagnosis
- Nonsense variant
- Nuclear envelope
- Nucleated cell
- Nucleic acid
- Nucleotide
- Nucleus
o
- Off-target effects
- Oligogenic
- Oogenesis
- Organelle
- Organism
p
- p arm
- p53
- Panel testing
- Pathogenic
- Pathogens
- Pathologist
- Penetrance
- Personalised medicine
- Pertinent findings
- Pharmacogenomics
- Phenocopy
- Phenotype
- Phosphate group
- Pluripotent cell
- Polygenic
- Polygenic condition
- Polymer
- Polymerase
- Polymerase chain reaction
- Polymorphisms
- Polypeptide
- Post-translational modification
- Predictive testing
- Primary gametes
- Probe
- Prokaryote
- Promoter
- Prophylactic
- Prophylactic surgery
- Protein
- Protein-coding region
q
- q arm
r
- Random assortment
- Rare disease
- Read
- Read depth
- Read length
- Recessive allele
- Recessive phenotype
- Reciprocal translocation
- Recombination
- Reference genome
- Ribonucleic acid (RNA)
- Ribose
- Ribosomes
- Robertsonian translocation
s
- Sanger sequencing
- Second degree relative
- Secondary gametes
- Semiconservative replication
- Sequence
- Sequencing
- Sex chromosome
- Single gene condition
- Single gene sequencing
- Single nucleotide polymorphisms
- Sister chromatids
- Somatic cells
- Somatic variant
- Somatic variation
- Sperm
- Spermatogenesis
- Spindle
- Splicing
- Stop codon
- Structural variants
t
- Telomeres
- Third degree relative
- Thymine
- Transcription
- Transcription factors
- Transcriptomics
- Transfer RNA
- Translation
- Translocation
- Trisomy
- Truncating variant
u
- Unbalanced translocation
- Uracil
v
- Variant
- Variant calling
- Variants of uncertain significance
- Virtual panels
w
- Whole exome sequencing
- Whole genome sequencing
x
- X chromosome
- X-linked inheritance
y
- Y chromosome
z
- Zygote
