Sequencing the Human Genome
When were the first draft sequences of the human genome published?
2001
When could a full sequence of DNA be acquired in a day for only $1000?
2015
In chain termination sequencing, what is the DNA template combined with?
A DNA primer, the DNA polymerase 1 enzyme, and a mixture of two types of free nucleotides, deoxynuceotides and dideoxynucleotides.
What is the fluorescence intensity translated into?
A data peak that represents the order of nucleotides in the template DNA.
What does each GenBank entry contain?
A sequence and an accession number as well as supporting bibliographic and biological annotations such as author references and taxonomic data.
What is the result of end termination?
A series of DNA fragments of differing sizes that can be separated by capillary electrophoresis.
What happens as a new nucleotide is added to the complimentary strand ?
A signal unique to that nucleotide is released.
What happens in sequencing by synthesis?
A single strand of DNA that complements the strand of interest is built nucleotide by nucleotide with each added nucleotide releasing a specific signal.
What doss the DNA Pol 1 occasionally do?
Adds a ddNTP to the DNA strand which terminates a reaction.
What is the precise order of the coding nucleotides?
Adenine, Guanine, Cytosine, and Thymine
What is the Genetic Information Nondiscrimination Act of 2008?
An act that prohibits the use of genetic information in employment and health insurance decisions.
What does BLAST stand for?
Basic Local Allignment Search Tool
What is often called Sanger sequencing and allows researchers to generate long DNA reads of a target sequence or template?
Chain termination sequencing
What are two popular approaches in generating sequence methods?
Chain termination sequencing and sequencing by synthesis.
What is the largest and most influential sequencing database?
GenBank
What is the disadvantage of using sequencing by synthesis?
It can only produce shorter reads of 50-150bp which means that many reads must be performed to sequence a single gene.
What does BLAST do?
It finds regions of local similarity between a user's DNA sequence and sequences in the GenBank databases.
Why is Sanger sequencing still used today?
It has the ability to generate long sequence reads from 500-800bp.
How does genomic comparison between humans and other organisms help us?
It helps to connect the biology of model organisms to human physiology.
How does information from the human genome help us?
It helps us understand our physiology and the biological basis of inherited diseases.
What must happen to the DNA before sequencing?
It must be prepared and immobilized.
What does the NCBI or National Center for Biotechnology Information do?
It oversees and maintains the sequencing databases as a whole but each entry is submitted directly by individual laboratories.
What is the advantage of using sequencing by synthesis?
Many different DNA strands can be examined in a single run. It has a much higher throughput and a lower cost than Sanger sequencing.
What is DNA sequencing of individual patients?
Personalized medicine
What do molecular biologists do after obtaining DNA sequencing data?
Public databases are searched for similar sequences.
What are the prepared and immobilized DNA samples allowed to do?
Rebuild themselves into double stranded DNA.
What can performing a DNA sequence search reveal?
Research already performed on the sequenced gene, including the three-dimensional structure of the gene product, diseases associated with the sequence, and in which tissues the gene is active.
How has technology helped with in genetics?
Technology has allowed scientists to acquire the full genome data simple and fast.
Who published the first draft sequences of the human genome?
The Human Genome Project and Celera.
What is phylogeography?
The field in science where scientists examine current and ancient geographic patterns of molecular genetic variation to learn more about human's global expansion and adaptation.
What is an end termination due to?
The lack of a 3'hydroxyl group on the ddNTPs.
What does preparation and immobilization of DNA involve?
The random fragmentation of the DNA of interest, anchoring the DNA fragment to a solid surface, and eliminating one of the strands.
What allows the fluorescence of a particular DNA strand to read by a laser?
The specific color labeled on the ddNTPs.
When was Sanger sequencing introduced?
1977
What is bioinformatics?
A discipline that blends computer science, biology, and information technology.
During the sequencing reaction, what uses the DNA templates to and adds dNTPs to the primer to for. A complementary strand of DNA?
DNA Pol 1
What are genes?
Discrete units of genetic information that contain the instructions to build and maintain an organism.
What does personalized medicine do?
It uses an individual's genetic profile to guide decisions regarding prevention, diagnosis, and treatment of disease.
What are genes made out of?
Nucleotides
What do comparative genomic studies help us?
They can decipher the roles of protein coding genes, noncoding RNAs, and regulatory sequences in evolution.
What have genomic-scale studies shown regarding populations?
They have shown a presence of extensive interbreeding between separated populations, which was far more than was previously estimated.
How many base pairs of DNA is the haploid human genome comprised of and how many chromosomes are they organized into?
Three billion base pairs 23 chromosomes
What has direct submission allowed the database to do?
To keep pace with the rapid growth in sequence data production.
