Core concepts

0-9

A

• Autosomal dominant inheritance Core concepts
• Autosomal recessive inheritance Core concepts

B

C

• Chromosomal conditions Core concepts
• Constitutional (germline) vs somatic (tumour) variants Core concepts
• Copy number variants Core concepts

D

• Deletions and microdeletions Core concepts
• DNA Core concepts
• Duplications and microduplications Core concepts
• The diagnostic odyssey in rare disease Core concepts

E

• Epigenetics Core concepts
• Expressivity Core concepts

F

G

• Gene Core concepts
• Genome Core concepts
• Genomic imprinting Core concepts

H

• The Human Phenotype Ontology (HPO) Core concepts

I

• Introduction to pharmacogenomics Core concepts
• Introduction to rare disease Core concepts

J

K

• Key diagnostic terminology for skeletal dysplasia disorders Core concepts

L

M

• Meiosis Core concepts
• Mismatch repair deficiency and microsatellite instability Core concepts
• Mitochondrial inheritance Core concepts
• Mitosis Core concepts
• Mosaicism Core concepts
• Multifactorial conditions Core concepts

N

• Non-coding DNA Core concepts

O

P

• Penetrance Core concepts
• Proteins Core concepts
• The paternal age effect Core concepts

Q

R

• RNA Core concepts

S

• Single nucleotide variants Core concepts

T

U

V

• Variant Core concepts

W

X

• X-linked inheritance Core concepts

Y

Z