1. Behavioural genetics:
Twin and family studies
Measured genetic variants
Quasi-experimental designs
Genetic influences on behaviour
Nature of environmental influence
Nature of genetic influence
Psychiatric genetics
2. Cytogenetics:
Karyotyping
Banding technique
Comparative genome hybridization
FISH (fluorescent in situ hybridization)
3. Epigenetics:
Molecular basis
DNA damage
Techniques used to study epigenetics
ChIP-on-chip and ChIP-Seq)
Fluorescent in situ hybridization
Methylation-sensitive restriction enzymes
DNA adenine methyltransferase identification (DamID)
Bisulfite sequencing
Mechanisms
Covalent modifications
RNA transcripts
MicroRNAs
mRNA
sRNAs
Prions
Structural inheritance
Nucleosome positioning
Functions and consequences
Development
Transgenerational
Epigenetics and epigenetic drugs
Neurodegenerative diseases of motor neurons
Amyotrophic lateral sclerosis (ALS)
Spinal Muscular Atrophy (SMA)
Neurodegenerative Diseases of the Central Nervous System
Alzheimer's Disease (AD)
Huntington's Disease (HD)
Parkinson's Disease (PD)
4. Molecular genetics:
Molecular basis for inheritance
DNA and chromosomes
Reproduction
Recombination and genetic linkage
Gene expression
Genetic code
Gene regulation
Genetic change
Mutations
Natural selection and evolution
Medicine
Research methods
DNA sequencing and genomics
Genetic testing:
Cell-free fetal DNA
Newborn screening
Diagnostic testing
Carrier testing:
Preimplantation genetic diagnosis
Prenatal diagnosis
Predictive and presymptomatic testing
Pharmacogenomics
Non-diagnostic testing:
Forensic testing
Paternity testing
Genealogical DNA test
Research testing
5. Genomics
Genome analysis
Sequencing
Shotgun sequencing
High-throughput sequencing
Assembly
Assembly approaches
Finishing
Annotation
Sequencing pipelines and databases
Functional genomics
Structural genomics
Epigenomics
Metagenomics
Pharmacogenomics
Drug-metabolizing enzymes
Predictive prescribing
Polypharmacy
Drug labeling
6. Human mitochondrial genetics:
Mitochondrial genes
Replication, repair, transcription and translation
Mitochondrial disease
7. Medical genetics:
Types of genetic disorder:
Single-gene
Autosomal dominant
Autosomal recessive
X-linked dominant
X-linked recessive
Y-linked
Mitochondrial
Causes of genetic disorder
Diagnosis
Treatment / gene therapy
List of genetic disorder:
1p36 deletion syndrome
18p deletion syndrome
21-hydroxylase deficiency
Alpha 1-antitrypsin deficiency
AAA syndrome (achalasia-addisonianism-alacrima)
Aarskog– Scott syndrome
ABCD syndrome
Aceruloplasminemia
Acheiropodia
Achondrogenesis type II
Achondroplasia
Acute intermittent porphyria
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Alagille syndrome
Adult syndrome
Albinism
Alexander disease
Alkaptonuria
Alport syndrome
Alternating hemiplegia of childhood
Amyotrophic lateral sclerosis
Alström syndrome
Alzheimer's disease
Amelogenesis imperfecta
Aminolevulinic acid dehydratase deficiency porphyria
Androgen insensitivity syndrome
Angelman syndrome
Apert Syndrome
Arthrogryposis–renal dysfunction–cholestasis syndrome
Ataxia telangiectasia
Axenfeld syndrome
Beare-Stevenson cutis gyrata syndrome
Beckwith–Wiedemann syndrome
Benjamin syndrome
Biotinidase deficiency
Björnstad syndrome
Bloom syndrome
Birt–Hogg–Dubé syndrome
Brody myopathy
Cadasil syndrome
Carasil syndrome
Chronic granulomatous disorder
Campomelic dysplasia
Canavan disease
Carpenter Syndrome
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome (SEDNIK)
Cystic fibrosis
Charcot–Marie–Tooth disease
CHARGE syndrome
Chédiak–Higashi syndrome
Cleidocranial dysostosis
Cockayne syndrome
Coffin–Lowry syndrome
Cohen syndrome
Collagenopathy, types II and XI
Congenital insensitivity to pain with anhidrosis (CIPA)
Cowden syndrome
CPO deficiency (coproporphyria)
Cranio–lenticulo–sutural dysplasia
Cri du chat
Crohn's disease
Crouzon syndrome
Crouzonodermoskeletal syndrome (Crouzon syndrome with acanthosis nigricans)
Darier's disease
Dent's disease (Genetic hypercalciuria)
Denys–Drash syndrome
De Grouchy syndrome
Di George's syndrome
Distal hereditary motor neuropathies, multiple types
Ehlers–Danlos syndrome
Emery–Dreifuss syndrome
Erythropoietic protoporphyria
Fanconi anemia (FA)
Fabry disease
Factor V Leiden thrombophilia
Familial adenomatous polyposis
Familial dysautonomia
Feingold syndrome
FG syndrome
Friedreich's ataxia
G6PD deficiency
Galactosemia
Gaucher disease
Gillespie syndrome
Griscelli syndrome
Hailey-Hailey disease
Harlequin type ichthyosis
Hemochromatosis, hereditary
Hemophilia
Hepatoerythropoietic porphyria UROD
Hereditary coproporphyria
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome)
Hereditary Inclusion Body Myopathy
Hereditary multiple exostoses
Hereditary spastic paraplegia (infantile-onset ascending hereditary spastic paralysis)
Hermansky–Pudlak syndrome
Hereditary neuropathy with liability to pressure palsies (HNPP)
Homocystinuria
Huntington's disease
Hunter syndrome
Hurler syndrome
Hutchinson-Gilford progeria syndrome
Hyperoxaluria, primary
Hyperphenylalaninemia
Hypoalphalipoproteinemia (Tangier disease)
Hypochondrogenesis
Hypochondroplasia
Immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome)
Incontinentia pigmenti
Isodicentric 15
Jackson– Weiss syndrome
Joubert syndrome
Juvenile Primary Lateral Sclerosis (JPLS)
Keloid disorder
Kniest dysplasia
Kosaki overgrowth syndrome
Krabbe disease
Kufor–Rakeb syndrome
LCAT deficiency
Lesch-Nyhan syndrome)
Li-Fraumeni syndrome
Lynch Syndrome
Lipoprotein lipase deficiency, familial
Marfan syndrome
Maroteaux–Lamy syndrome
McCune–Albright syndrome
McLeod syndrome
MEDNIK syndrome
Mediterranean fever, familial
Menkes disease
Methemoglobinemia
methylmalonic acidemia
Micro syndrome
Microcephaly
Morquio syndrome
Mowat-Wilson syndrome
Muenke syndrome
Multiple endocrine neoplasia (type 1 and type 2)
Muscular dystrophy
Muscular dystrophy, Duchenne and Becker type
Myostatin-related muscle hypertrophy
myotonic dystrophy
Natowicz syndrome
Neurofibromatosis type I
Neurofibromatosis type II
Niemann–Pick disease
Nonketotic hyperglycinemia
nonsyndromic deafness
Noonan syndrome
Ogden syndrome
osteogenesis imperfecta
Pantothenate kinase-associated neurodegeneration
Patau Syndrome (Trisomy 13)
PCC deficiency (propionic acidemia)
Porphyria cutanea tarda (PCT)
Pendred syndrome
Peutz-Jeghers syndrome
Pfeiffer syndrome
phenylketonuria
Pitt–Hopkins syndrome
Polycystic kidney disease
Polycystic Ovarian Syndrome (PCOS)
porphyria
Prader-Willi syndrome
Primary ciliary dyskinesia (PCD)
primary pulmonary hypertension
protein C deficiency
protein S deficiency
Pseudo-Gaucher disease
Pseudoxanthoma elasticum
Retinitis pigmentosa
Rett syndrome
Rubinstein-Taybi syndrome (RSTS)
Sandhoff disease
Sanfilippo syndrome
Schwartz–Jampel syndrome
spondyloepiphyseal dysplasia congenita (SED)
Shprintzen–Goldberg syndrome FBN1
sickle cell anemia
Siderius X-linked mental retardation syndrome
Sideroblastic anemia
Sly syndrome
Smith-Lemli-Opitz syndrome
Smith Magenis Syndrome
Spinal muscular atrophy
Spinocerebellar ataxia (types 1-29)
SSB syndrome (SADDAN)
Stargardt disease (macular degeneration)
Stickler syndrome
Strudwick syndrome (spondyloepimetaphyseal dysplasia, Strudwick type)
Tay-Sachs disease
tetrahydrobiopterin deficiency
thanatophoric dysplasia
Treacher Collins syndrome
Tuberous Sclerosis Complex (TSC)
Turner syndrome
Usher syndrome
Variegate porphyria
von Hippel-Lindau disease
Waardenburg syndrome
Weissenbacher-Zweymüller syndrome
Williams Syndrome
Wilson disease
Woodhouse–Sakati syndrome
Wolf–Hirschhorn syndrome
Xeroderma pigmentosum
X-linked mental retardation and macroorchidism (fragile X syndrome)
X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy)
Xp11.22 deletion
X-linked severe combined immunodeficiency (X-SCID)
X-linked sideroblastic anemia (XLSA)
47,XXX (triple X syndrome)
XXXX syndrome (48, XXXX)
XXXXX syndrome (49, XXXXX)
XYY syndrome (47,XYY)
8. Population genetics
Modern synthesis
Four processes
Selection
Dominance
Epistasis
Mutation
Genetic drift
Gene flow
Horizontal gene transfer
Linkage
Applications
Explaining levels of genetic variation
Detecting selection
Demographic inference
Evolution of genetic systems
Quantitative genetics
Genetic epidemiology
Statistical genetics
9. Genetic counseling