Genome and Beyond Flashcards
Basic Goals of Human Genome Project
proposed to map and sequence the human genome within 15 years and make it public and freely accessible; included model organisms
Basic Goals of HapMap
sequence multiple individuals [of differing heritage] to begin to detect variations in the genome
Basic Goals of Thousand Genomes Project
use cheaper technology to find many genetic variants of 1% or more in the included populations (we learned we all have “bad” mutations somewhere)
Basic Goals of ENCODE
identify all functional elements of the human genomes sequence, including coding and non-coding regions, regulatory elements, etc
precision medicine
tailoring medical treatments to individual characteristics, needs, and preferences, with a goal of more effective outcomes due to targeted therapies
Availability of Animal Genomes?
many many draft sequences available (pufferfish, chicken, chimp, dog were first, after the mouse of course)
BAC
bacterial artificial chromosome
Human Genome Project Approach
break up DNA into small pieces and stick them into BACs, then sequenced each BAC and put them all back together
shotgun sequencing
blast the genome into lots of 200 base pair pieces, then read the base pairs and a computer matches everything up with the genome map that’s already been created (skips BACs)
ENCODE
ENCyclopedia Of Dna Elements
3 Steps of Personalized Medicine
- Prevention
- Diagnosis
- Treatment
3 Requirements for Precision Medicine
- Marker with a diagnosis (ie known mutation)
- A test to detect the marker
- A clinical decision about treatment options
Genetics and Precision Medicine
child with rare disease, individuals not responding to treatments, targeted cancer therapies for specific markers
Pharmacogenomics
certain mutations may change the way an individual reacts to a drug; FDA requires genomic biomarker info on packaging
Only finished animal genome?
the mouse
