Module 13/14 Flashcards

1
Q

precision medicine

A

customized prevention based on genetic info

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2
Q

personal genome

A

sequencing reveals predisposition

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3
Q

cystic fibrosis

A

auto recessive gene encodes protein channel to help chloride export salt from cells

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4
Q

cancer moonshot

A

intensify efforts to apply precision medicine to cancer by Biden

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5
Q

all of us program

A

gather data from 1M+ to accelerate research

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6
Q

craig venter

A

called for more genomes to be sequenced

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7
Q

CYP genes

A

involved in metabolizing medication

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8
Q

james watson

A

sequenced self genome except ApoE allele

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9
Q

pharmacogenetics

A

how genetic variations affect body’s response to drugs

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10
Q

warfarin

A

blood thinner, precise dosage, first drug to have FDA warning indicating genetic testing

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11
Q

cytochrome P450 genes

A

produce enzymes active in liver to metabolize drugs

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12
Q

poor metabolizer

A

two variants, LOF enzymes

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13
Q

intermediate metabolizer

A

one variant, LOF enzymes, one normal allele

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14
Q

normal metabolizer

A

no variants, normal enzyme activity

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15
Q

ultra-rapid metabolizer

A

increased enzyme activity

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16
Q

codeine

A

analgesic converted to morphine by CYP

17
Q

HTR2A

A

serotonin receptor variant predicts response to antidepressants

18
Q

TPMT

A

enzyme in detoxifying chemotherapy drugs

19
Q

pipeline variant calling

A

how we identify variants from sequence data

20
Q

DTC

A

direct to consumer testing for carrier status

21
Q

ELSI

A

ethical, legal, societal implications

22
Q

genome scan

A

scans limited number of SNPs for phenotype

23
Q

exome sequencing

A

provides 3% of sequence

24
Q

validity

A

analytic accuracy vs clinical

25
Q

CLIA

A

sets federal standards for validity

26
Q

FDA

A

determines clinical validity

27
Q

incidental findings

A

findings not part of initial test

28
Q

nutrigenetics

A

how genes are involved in nutrition and health

29
Q

metagenomics

A

analysis of collective group of organisms from environment

30
Q

16s sequence

A

16srRNA analysis of just rRNA in environmental sample. how we study microbes

31
Q

universal primers

A

primers can anneal to many templates

32
Q

human microbiome project

A

surveying microbiota found in 7 human tissues