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Extreme Phenotyping study (Types of study (Method used (WES, Microarray,…
Extreme Phenotyping study
What is EP?
Different types of methods used
Advantage of EP over other methods
Types of study
Method used
WES
Microarray
Immunochip
Transcriptome
Genotyping
Ultra-deep sequencing
WGS
Sanger Sequencing
Targeted sequencing
Amplicon Seq
Extended WES
Illumina HumanMethylation450 BeadChip
Candidate SNP Genotyping
If replication cohort used, number of samples, multi- ethinic?
Disease/Phenotype
Healthy
Longivity
Height
NEO personality traits
Disease
Common Diseases
Behavioural
suicide and impulsive behavior
Posttraumatic stress disorder (PTSD)
Respiratory
Asthma
COPD
P. aeruginosa airway infection
Obesity & Diabetes
obesity & insulin resistance
Diabetic retinopathy (DR)
Antiviral
chronic hepatitis B (CHB)
Dengue
AIDS
HIV-1-induced immunosuppression
Influenza
Hypertension
malignant hypertension
Hypertensive crisis
hypertension
Miscellaneous
Pelvic organ prolapse
UC
Statin-induced myopathy
Low cholesterol absorption
Dioxin toxicity
Vesico-ureteral reflux (VUR)
Neurological
ADHD
Familial epilepsy syndrome
Bone related
Osteoporotic fracture risk
Trabecular bone plasticity
Autoimmune
Multiple autoimmune syndrome
Familial autoimmunity and polyautoimmunity
Systemic lupus erythematosus (SLE)
Cancer
Osteosarcoma
Metastatic breast cancer (MBC)
Cancer susceptibility and tolerance
Non-small cell lung cancer (NSCLC)
Mammographic density (MD)
Metastatic renal-cell-carcinoma (MRCC)
Cardiovascular
Atrial fibrillation
Thoracic aortic aneurysm (TAA)
Rare Diseases
Respiratory
Cystic fibrosis
Obesity & Diabetes
Type III hyperlipoproteinemia (HLP)
Cardiovascular
Type III hyperlipoproteinemia (HLP)
Miscellaneous
Netherton syndrome
Acute neuronopathic Gaucher's disease
Adrenoleukodystrophy (ALD)
Treatment-resistant ophthalmoplegia (OP-MG)
Autoimmune
Autosomal dominant early-onset AD (ADEOAD)
Early-onset Alzheimer disease (EOAD)