What is the Human Genome Project - PowerPoint PPT Presentation

1 / 24
About This Presentation
Title:

What is the Human Genome Project

Description:

'Sequence the 3 billion ( ) base pairs of human DNA ... CS-Packard DNA Production Robotic Systems (x 3) ... Fugu, Hamster, Cow, Sheep, Pig, Chicken, Honey Bee, ... – PowerPoint PPT presentation

Number of Views:676
Avg rating:3.0/5.0
Slides: 25
Provided by: dianea8
Category:

less

Transcript and Presenter's Notes

Title: What is the Human Genome Project


1
Celera Genomics
Public Consortium
2
(No Transcript)
3
Sequence Genomes
Genetic Mapping, Mutation Detection
Find Genes
Establish Function and Disease Mechanism
Diagnostics/ Prognostics
Drug Candidates
Gene Therapy
Cure
4
Sequence the 3 billion () base pairs of human
DNA and identify all genes contained in the human
genome
DNA Sequence Reads - Need 60,000,000 of them!!
5
Time Line of the Human Genome Project
6
BCM-HGSC Sequencing Throughput
7
Standard Molecular Biology techniques running
agarose gels.
8
CS-Packard DNA Production Robotic Systems (x 3)
9
(No Transcript)
10
Multiplexed (104) Capillary Array for
Electrophoresis
11
State of the Art - ABI 3700 Prism DNA Sequencer
12

US 300,000 Each!
A room full of 3700 Sequencers total price tag
of US 22.5 Million
13
State of the Art Assembly
Whole Genome Shotgun (WGS)
BAC by BAC
Versus
-Front end loaded, - Tractable Assembly
Problem
-Efficient front end, - Huge Assembly Problem
BCM- HGSC
14
Linux Farm
15
Very small changes in technology have had a huge
impact on the HGP.. Imagine what a large
change in technology would do
16
The Future More Genomes!!
Rat, Mouse, Rabbit, Dog, Chimp, Rhesus,
Zebrafish, Fugu, Hamster, Cow, Sheep, Pig,
Chicken, Honey Bee, Silk Worm, Shark, Dolphin,
Whale, Frog, Sea Urchin, Sea Squirt, Sea Turtle,
Salmon, Hydra, Wallaby, Platypus, Rice, Wheat,
Maize, Sorgum, Soy, Banana, Poplar, Potato,
Corn, Sea Turtle, Wheat, Pine .
17
COMPLETE (HETEROZYGOUS) MUTATION DETECTION
ABI 370 Universal Primer Tag PCR
exon
18
OMIM - 10,000 Entries
BCM- HGSC
19
Dextrocardia and Situs Inversus
Disorders of laterality occur in 2 3 per 10,000
live births
20
BCM- HGSC
21
SCREENING 160 SPORADIC PATIENTS IN NODAL
SIGNALING PATHWAY
NODAL LEFTYA competing for receptor components
RECEPTORSTYPE 1 (ALK2 ACVR1ALK4 ACVR1B
ALK7 (mouse) TYPE 2 (ActRIIA ACVR2ActRIIB
ACVR2b)
EGF-CFC Co-Factor Proteins Cripto and
Cryptic Interacts with ALK4 receptor
INTRACELLULAR MEDIATORS, SMAD2, SMAD3, SMAD4
SMADS INTERACTS w/FAST1 to activate gene
SMADS INTERACTS w/TGIF to repress pathway
Human mutations in all loci marked in read
Target Genes PITX2 NODAL LEFTYB
22
Epigenetics/Methylation
Epigenix web site
Genomic DNA can be different in Different cells
of the same person..
23
(No Transcript)
24
230 Personnel
BCM-HGSC
Write a Comment
User Comments (0)
About PowerShow.com