Genes & Genomes - Lec 4 - The human genome project - PART 1 Flashcards
What is the goal of the human genome project?
1) Read the entire script of the human sequence
2) identify all human genes
3) lay the foundation for sequencing all species
What was the approach is used for the public human genome project?
BAC library approach
Can you explain how human DNA was cloned in bacteria step by step?
1) human DNA is fragmented
2) Vector DNA is cut (BAC)
3) The DNA is joined
4) Inserted in Bacteria (E. Coli)
5) Bacteria are then cloned
Why was the human genome a very hard task when it was first attempted?
1) Very large - 3.1 BP
2) Sequencing of the genome required 60 million sequencing experiments
3) Done at different labs
4) Low computational capacity
Who was sequenced?
Out of 21 samples, 5 samples where used
How and when was the publication and data of the human genome project released?
In 1996, the summit in Bermuda.
What were the three Bermuda Principles?
1) Automatic release of sequence assemblies larger than 1Kb
2) Immediate publication of finished sequences
3) Aim to make the entire sequence freely available to the public domain for both research and development in order to maximise benefits to society.
Topic: Patents
Against:
1) Why should patents only be granted to inventions and not discoveries of nature?
2) How can DNA sequence patents potentially inhibit progress in medical research?
3) Why are DNA sequence patents considered morally objectionable?
For:
1) What elevates the discovery of gene sequences to the status of an invention?
2) Why may obtaining a patent be necessary for companies or organizations involved in gene sequencing?
3) How can patents promote research and development in the field of gene sequencing?
Against:
1) Patents should only be granted to inventions because discoveries of nature are not the product of human ingenuity.
2) DNA sequence patents may prevent researchers from exploring certain areas of study and could slow down progress towards developing cures for diseases.
3) Patents on human DNA are seen as morally problematic because it creates a property right over a part of the human body.
For:
1) The effort involved in locating and characterizing genes makes their discovery an invention.
2) Obtaining a patent can be the only way for companies to recoup their investment in gene sequencing research.
3) Patents can encourage innovation by allowing researchers to focus their efforts and preventing duplication of research.
Is the human Genome project finished?
1) The human genome project is finished within the limits of today’s technology. Small gaps remained unrecoverable in any sequencing method today.
2) Whole gene-containing portion of the genome is complete in nearly every functional way
What do scientists mean by a finished genome?
When they are confident they have found almost all genes and most of the important bits.
How many gaps does the original GrCh38 human genome project have?
150 megabases
What is the gene density of a human?
20,418
What is a complex issue surrounding the genome of an organism? (Exons vs Intros)
The complexity arises from the ability to understand the interactions between the genes. Some genes work together to transcript a protein, however different gene switch on/off the transcription a proteins with different structures. This is called alternative splicing
Why do scientists want to sequence more human genomes?
1) Understand genetic variation and an individual, family and population level
2) Discover the heritability of human disease
3) Make data of GWAs more applicable to different ethnic groups for clinical genetic research
What was the goal of the 1000 Genomes project?
1) Find genetic variants that have frequencies of at least 1% in the population
2) Showed variance used by searches for disease genes
3) Show variation in different genes and region of the genome to understand functionality
