Notes in b. Human Genome

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Status	Last Update	Fields
Published	07/28/2024	Use of inter-species sequence comparisons?
Published	07/28/2024	Use of intra-species sequence comparisons?
Published	07/28/2024	{{c1::Normal::type}} cells and {{c1::tumor::type}} cells are compared in intra-individual sequence comparisons
Published	07/28/2024	What does it mean for genes to be linked?
Published	07/28/2024	Genes will be linked when they are {{c1::closer::closer/further}} to/from each other on a chromosome
Published	07/28/2024	{{c1::Haplotype::name}} {{c1::blocks::name}} occur when only a subset of all possible haplotypes is inherited
Published	07/28/2024	Why do haplotype blocks occur?
Published	07/28/2024	What does it mean for three variants to be in linkage disequilibrium?
Published	07/28/2024	Out of Africa hypothesis suggests that native African populations have {{c1::fewer::more/fewer}} SNPs in a typical haplotype block
Published	07/28/2024	How do GWAS solve the multiple observations problem?
Published	07/28/2024	~{{c1::90::amount}}% of GWAS variants are in {{c1::non-coding::coding/non-coding}} regions!
Published	07/28/2024	Why might a mutation in a "far-away" regulatory sequence have dramatic consequences?
Published	07/28/2024	What does high presence of Protein Truncating Variants (PTVs) in exome data suggest about effects of gene deletion?
Published	07/28/2024	What does it mean for monogenic diseases to be Mendelian?
Published	07/28/2024	Why was the prevalence of β-thalassemia homozygotes in Sardinia reduced significantly from '75 to '94?
Published	07/28/2024	Prenatal screening can occur as early as {{c1::8::amount}}-{{c1::10::amount}} weeks of pregnancy
Published	07/28/2024	The most common gene variant for T2D only changes risk {{c1::1.4::amount}} fold
Published	07/28/2024	Gene variants for T2D discovered in GWAS only explains {{c1::15::amount}}% of heritable risk
Published	07/28/2024	What explains T2D risk more than GWAS SNPs?
Published	07/28/2024	Why are previous "candidate" gene association studies wrong?
Published	07/28/2024	Why should we expect most common gene variants to have only "modest" effects on disease risk?
Published	07/28/2024	What defines a Class I genetic test?
Published	07/28/2024	What defines a Class III genetic test?
Published	07/28/2024	Why is genetic test for Factor V Leiden (venous thrombosis aka blood clot) not actionable?
Published	07/28/2024	Genomics studies have exceeded expectations in providing earlier diagnosis of {{c1::Mendelian}} disorders
Published	07/28/2024	Association between SNP and disease could be by {{c1::just chance}}
Published	07/28/2024	{{c1::GWAS}} checks for associations in millions of SNPs
Published	07/28/2024	GWAS:Multiple SNPs could be helpful at higher end of spectrum
Published	07/28/2024	Lessons from GWAS?
Published	07/28/2024	Class II studies are {{c1::grey zone}} studies
Published	07/28/2024	Even though {{c1::MTHFR C677T}} and {{c1::PAI1 4G/5G}} might have some effect in DVT, GWAS did not pick them up at all
Published	07/28/2024	GWAS ability to pick up depends on:1) {{c1::how big the effect is }}2) {{c1::how common the variant is}}
Published	07/28/2024	How does the treatment of VT change with and without FVL?
Published	07/28/2024	Genetic testing guide {{c1::does not::does/does not}} have convincing evidence that it should be used to guide warfarin therapy
Published	07/28/2024	3 diseases which show the impact of genome sequencing in identifying a critical single nucleotide polymorphism that leads to a disease phenotype are {…
Published	07/28/2024	Improvements in predictability of GWAS has been achieved by analyzing people by their percentile on a distribution of the number of SNPs which is othe…
Published	07/28/2024	What is precision medicine?
Published	07/28/2024	Genetic testing can be used to guide treatment of {{c1::some cancers}}
Status	Last Update	Fields