LESSON 1:
What is Genetic Research?
PowerPoint slides to accompany
Using Bioinformatics:
Genetic Research
Genetic Research Deals
with Inherited Traits
Genetic researchers study inherited traits by
analyzing DNA sequences.
Use bioinformatics to
research differences in DNA
sequences.
How are we similar?
How are we different?
DNA isolation.
Scientific Practices
Ask a Question Based on Observations:
Plants grow in soil. What do plants use to grow larger?
Hypothesis & Prediction: If – and – then
Hypothesis: Plants use materials in the soil to gain mass.
Prediction: If my hypothesis is correct, and I measure the mass
of soil & plants over time, then I predict the soil mass will
decrease as plant mass increases.
Gather and Analyze Data (Methods):
Measure mass of bean seeds and soil at Day 1 and Day 15.
Results:
Bean plants increased in mass by 24.6 grams. Soil mass stayed
the same.
Conclusions:
Minerals from the soil do not affect the mass of plants.
Hypothesis is contradicted.
New Hypothesis:
Plants use something in the air to gain mass.
Image Source: Wikipedia Commons
The Practices of Scientific Research
Observations of Nature
Interpretation and Evaluation
Hypothesis and Prediction
The
Scientist
Data Collection and Analysis
What is Bioinformatics?
Bioinformatics is the application of computer
science and information technology to biology
and medicine.
Bioinformatics makes it possible to analyze large
quantities of complex biological data and can be
used to search biological databases, compare
sequences, and draw molecular structures.
Bioinformatics Tools Help Scientists:
Organize, Process, and Make Sense of Complex Biological Data Sets
DNA
Bioinformatics Tools:
DNA Sequencing
Identify Mutations in
DNA.
RNA
Bioinformatics Tools:
RNA Sequencing
Identify tissue specific
gene expression.
Protein
Bioinformatics Tools:
Protein 3D Structure
visualization.
Question: What kinds of scientific questions can we answer with bioinformatics tools?
Image Source: Wikipedia Commons
The Practices of Scientific Research
Observations of Nature
DNA sequences
from tumors
contain genetic
mutations.
Hypothesis and Prediction
Genetic
differences
contribute to the
development of
cancer.
Do families with higher rates of
cancer also have higher rates of DNA
damage?
Interpretation and Evaluation
The
Scientist
Studies by other
scientists
demonstrate that
genes X and Y are
involved in DNA
repair, which could
explain the
increased cancer
risk.
Data Collection and Analysis
Comparisons of genomes from
different cancers identify
variants in genes X and Y.
DNA Sequencing Core Lab Manager
ELLEN SISK, MS
Place of Employment:
Seattle Biomedical Research Institute
Type of Work:
Manages the DNA Sequencing “Core.” The Core
lab is a centralized facility that provides DNA
sequencing for all the researchers at the Institute.
The Seattle BioMed Sequencing Core facility has been in operation
for over 18 years and offers DNA sequencing and analysis to Seattle's
scientific community, as well as international scientists and organizations.
Our service provides cost-effective solutions for small laboratories that
lack access to sequencing technology.
Which Animals are Most Closely
Related to One Another?
Coyote
Jack Russell
English Shepherd
Toy Poodle
Labradoodle
Red fox
Gray wolf
Image Source: Wikipedia Commons
Cocker Spaniel
Inside the Gene Machine:
How Information from DNA is Acquired and Used for Genetic Testing
Genetic Counselors work with patients to
help them decide whether or not to have a
genetic test, and help them understand
the results of the test.
Patient Sample: Blood or
Saliva.
Lab Technicians work with patient samples in
the lab, purifying and sequencing the DNA.
Extract DNA from Cells.
Bioinformatics programmers create
computer programs to help biologists
analyze data.
Sequence DNA.
…TTCACCAACAGGCCCACA…
Compare Patient
DNA Sequence to
Reference Sequence.
Search Database to
Determine if Patient
Mutation is Associated
with Disease.
Image Source: Microsoft Clip Art
Reference …TTCACCAACATGCCCACA…
F T N M P T
Patient
…TTCACCAACAGGCCCACA…
F T N R P T
Biomedical Researchers perform
experiments with patient samples to find
different variations of genes that might
cause disease. Bioinformatics tools like
BLAST and ClustalW are used to compare
sequences.
Medical Doctors and Veterinarians use the
knowledge gained from genetic testing to
care for their patients.
How DNA Sequence Data is
Obtained for Genetic Research
Obtain Samples:
Blood , Saliva, Hair
Follicles, Feathers, Scales.
Genetic Data
Extract DNA from Cells.
Sequence DNA.
…TTCACCAACAGGCCCACA…
Image Source: Wikipedia Commons
Compare
DNA
Sequences to
One Another.
TTCAACAACAGGCCCAC
TTCACCAACAGGCCCAC
TTCATCAACAGGCCCAC
Which Animals are Most Closely
Related to One Another?
Coyote
Jack Russell
English Shepherd
Toy Poodle
Labradoodle
Red fox
Gray wolf
Image Source: Wikipedia Commons
Cocker Spaniel
Multiple Sequence Alignment
of Canine DNA Sequences
Color Coding Reveals Differences
DNA Sequencing Core Lab Manager
ELLEN SISK, MS
Place of Employment:
Seattle Biomedical Research Institute
Type of Work:
Manages the DNA Sequencing “Core.” The Core
lab is a centralized facility that provides DNA
sequencing for all the researchers at the Institute.
The Seattle BioMed Sequencing Core facility has been in operation
for over 18 years and offers DNA sequencing and analysis to Seattle's
scientific community, as well as international scientists and organizations.
Our service provides cost-effective solutions for small laboratories that
lack access to sequencing technology.
CAREERS IN SPOTLIGHT:
DNA Sequencing Core Lab Manager
What do they do?
The manager oversees the core lab facility. These types of facilities make
it possible to perform DNA sequencing reactions and analysis for many
different researchers at a given institution, company, or university. The Core
lab facility makes it possible for many researchers to share the same DNA
sequencing facility and expertise of technicians and the Core Lab Manager.
What kind of training is involved?
Bachelor’s degree in biology, molecular biology, biochemistry,
or related discipline. Some have a Master’s degree or a PhD.
What is a typical salary for a Core Manager?
Salaries vary with experience and range from $50-$100,000 per year
($25-$50/hour).
Source: Genome Technology Salary Survey 2010