Knowledge Hub
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine.
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A
- Achondroplasia Conditions
- Adrenocortical carcinoma Conditions
- Alpha-1 antitrypsin deficiency Conditions
- Aminoglycoside antibiotics Therapies
- Amniocentesis Technologies
- Anencephaly Conditions
- Angelman syndrome Conditions
- Ataxia telangiectasia Conditions
- Atezolizumab Therapies
- ATM-associated cancer risk Conditions
- Autism spectrum disorder Conditions
- Autosomal dominant inheritance Core concepts
- Autosomal recessive inheritance Core concepts
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B
- Becker muscular dystrophy Conditions
- Birt-Hogg-Dubé syndrome Conditions
- BRCA1 and BRCA2 Genes
- Breast cancer Conditions
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C
- Canavan disease Conditions
- Carbamazepine Therapies
- Carney complex Conditions
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Conditions
- Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies Conditions
- CHARGE syndrome Conditions
- Chorionic villus sampling Technologies
- Chromosomal conditions Core concepts
- Circulating tumour DNA for cancer patients Technologies
- Clinical trials in cancer Genomics in action
- Clopidogrel Therapies
- Coarctation of the aorta Conditions
- Cohen syndrome Conditions
- Colorectal cancer Conditions
- Combined first-trimester screening Technologies
- Combined pituitary hormone deficiency Conditions
- Common aneuploidy testing (QF-PCR) Technologies
- Congenital adrenal hyperplasia Conditions
- Congenital diaphragmatic hernia Conditions
- Congenital hypogonadotropic hypogonadism Conditions
- Congenital muscular dystrophy Conditions
- Constitutional (germline) vs somatic (tumour) variants Core concepts
- Copy number variants Core concepts
- CYP2C19 Genes
- CYP2D6 Genes
- Cystic fibrosis Conditions
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D
- Deletions and microdeletions Core concepts
- Differences in sex development Conditions
- Different approaches to gene sequencing Technologies
- Dihydropyrimidine dehydrogenase (DPD) deficiency Conditions
- Direct-to-consumer constitutional (germline) genomic testing Technologies
- DNA Core concepts
- Down syndrome (trisomy 21) Conditions
- Dravet syndrome Conditions
- Duchenne muscular dystrophy Conditions
- Duplications and microduplications Core concepts
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E
- Echogenic bowel Conditions
- Edwards syndrome (trisomy 18) Conditions
- Endocrine neoplasia Conditions
- Epigenetics Core concepts
- Episodic ataxia Conditions
- Exomphalos Conditions
- Expressivity Core concepts
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F
- Familial adenomatous polyposis Conditions
- Familial hypercholesterolaemia Conditions
- Familial hyperparathyroidism Conditions
- Familial hypocalciuric hypercalcaemia Conditions
- Fanconi anaemia Conditions
- Fetal megacystis Conditions
- Fetal ovarian cysts Conditions
- Fluorescent in situ hybridisation (FISH) Technologies
- Fluoropyrimidine-based chemotherapies Therapies
- Fragile X syndrome Conditions
- Friedreich ataxia Conditions
- Fumarate hydratase tumour predisposition syndrome (including hereditary leiomyomatosis and renal cell cancer) Conditions
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G
- Gastric cancer Conditions
- Gene Core concepts
- Gene panel sequencing Technologies
- Genome Core concepts
- Genomic imprinting Core concepts
- Genomic Laboratory Hubs Genomics in action
- Glucose transporter type 1 deficiency syndrome Conditions
- Gorlin syndrome Conditions
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H
- Hereditary diffuse gastric cancer syndrome (CDH1-related) Conditions
- Hereditary haemochromatosis Conditions
- Hereditary hypophosphataemic rickets Conditions
- Hereditary multiple exostoses Conditions
- Heritable TP53-related cancer syndromes Conditions
- Hirschsprung disease Conditions
- How to complete a record of discussion form Genomics in action
- How to complete a test order form for whole genome sequencing Genomics in action
- How to request a skeletal survey Genomics in action
- Huntington disease Conditions
- Hypochondroplasia Conditions
- Hypoparathyroidism Conditions
- Hypophosphatasia Conditions
- Hypoplastic left heart syndrome Conditions
- The Human Phenotype Ontology Core concepts
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I
- Identity testing Technologies
- Introduction to pharmacogenomics Core concepts
- Introduction to rare disease Core concepts
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K
- Kabuki syndrome Conditions
- Karyotype Technologies
- Key diagnostic terminology for skeletal dysplasia disorders Core concepts
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L
- Leber hereditary optic neuropathy Conditions
- Legius syndrome Conditions
- Limb girdle muscular dystrophy Conditions
- Long-read sequencing Technologies
- Lung cancer Conditions
- Lynch syndrome Conditions
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M
- Mainstreaming cancer susceptibility gene testing Genomics in action
- Manchester (Evans) score Technologies
- McCune-Albright syndrome Conditions
- Meiosis Core concepts
- Mental health and rare disease Genomics in action
- Microarray (array CGH) Technologies
- Micrognathia Conditions
- Mismatch repair deficiency and microsatellite instability Core concepts
- Mitochondrial conditions Core concepts
- Mitochondrial DNA testing Technologies
- Mitosis Core concepts
- Molecular tumour profiles for early breast cancer Technologies
- Monogenic diabetes Conditions
- Monogenic obesity Conditions
- Mosaicism Core concepts
- Multifactorial conditions Core concepts
- Multiple endocrine neoplasia type 1 Conditions
- Multiple endocrine neoplasia type 2 Conditions
- Multiple endocrine neoplasia type 4 Conditions
- Multiplex ligation-dependent probe amplification (MLPA) Technologies
- Mutational signatures Technologies
- MUTYH-associated polyposis Conditions
- Myotonic dystrophy Conditions
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N
- Neurofibromatosis type 1 Conditions
- Newborn blood spot screening Technologies
- Next-generation sequencing Technologies
- Nijmegen breakage syndrome Conditions
- Non-coding DNA Core concepts
- Non-invasive prenatal diagnosis (NIPD) Technologies
- Non-invasive prenatal testing (NIPT) Technologies
- Non-steroidal anti-inflammatory drugs (NSAIDs) Therapies
- Non-syndromic hearing loss Conditions
- NTRK inhibitors Therapies
- Nuchal translucency Conditions
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P
- Inherited phaeochromocytoma and paraganglioma Conditions
- PALB2 Genes
- Pancreatic cancer Conditions
- Parathyroid carcinoma Conditions
- PARP inhibitors Therapies
- Patau syndrome (trisomy 13) Conditions
- Penetrance Core concepts
- Peutz-Jeghers syndrome Conditions
- Pituitary adenoma Conditions
- Point-of-care pharmacogenomic testing Genomics in action
- Prader-Willi syndrome Conditions
- Preimplantation genetic testing Technologies
- Premature ovarian insufficiency Conditions
- Presymptomatic testing Technologies
- Proteins Core concepts
- PTEN syndrome Conditions
- Rare disease patient advocacy groups Genomics in action
- The paternal age effect Core concepts
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R
- R14: Acutely unwell children with a likely monogenic disorder (rapid genome testing) Genomics in action
- R21: Rapid prenatal exome sequencing Technologies
- R22: Fetus with a likely chromosomal abnormality Technologies
- RASopathies Conditions
- Renal cancer Conditions
- Repeat expansion disorders Conditions
- RNA Core concepts
- RNA sequencing (RNA-seq) Technologies
-
S
- Sanger sequencing Technologies
- Short tandem repeat (STR) testing Technologies
- Short-read sequencing Technologies
- SHOX-related haploinsufficiency Conditions
- Sickle cell disease Conditions
- Silver-Russell syndrome Conditions
- Single gene sequencing Technologies
- Single nucleotide variants Core concepts
- Sotos syndrome Conditions
- Southern blotting Technologies
- Spinal and bulbar muscular atrophy (Kennedy disease) Conditions
- Spinal muscular atrophy Conditions
- Statins Therapies
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T
- Tacrolimus Therapies
- Temple syndrome Conditions
- Tetralogy of Fallot Conditions
- Thalassaemia Conditions
- The diagnostic odyssey in rare disease Core concepts
- The Human Genome Project Genomics in action
- Thiopurines Therapies
- Three M syndrome Conditions
- Transposition of the great arteries Conditions
- Tuberous sclerosis complex Conditions
- Turner syndrome Conditions
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W
- When to suspect a skeletal dysplasia as a cause of short stature Conditions
- Whole exome sequencing Technologies
- Whole genome sequencing Technologies
- Williams syndrome Conditions