Term
When did human genome progect begin?
When did it end? |
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Definition
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Term
What are the main applications of genomics? |
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Definition
Genomic medicine: medicine, that involves using patient's genomic information as part of his or her health care. |
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Term
What are the main steps of genomic research? |
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Definition
- Understanding structure of genomes
- Understanding the biology of genomes
- Understanding the biology of desease
- Advancing the science of medicine
- Improving the effectivness of health care
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Term
What was human genome project aimed at? |
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Definition
Understanding the function and the biology of the genome |
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Term
Outline the main steps of human genome project and when they were performed |
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Definition
Mapping 1990 - 2000
Sequencing 1998 - 2003
Interpreting 2003+ |
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Term
What is the percentage of human genome, which is considered to be constrained across mammals (functional)?
How much is it in base pairs? |
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Definition
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Term
What is the size of human genome? |
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Definition
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Term
What percentage of human genome encodes proteins? |
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Definition
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Term
How many genes code for proteins? |
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Definition
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Term
How many proteins are in human body? |
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Definition
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Term
What is the persentage of functional genome? |
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Definition
3.5%
Functional, but not coding: gene regulatory element, chromosomal functional elements, undiscovered functional elements
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Term
What is the frequency of common allelic variants?What is effective size? |
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Definition
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Term
What is the frequency of rare variants?What is effective size? |
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Definition
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Term
What is the main characteristics of Illuminas HiSeq X Ten? |
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Definition
1.8 terabases of data — 16 human genomes' worth — per three-day run
4x faster than current Illumina machine
18.000 Genomes /year 1000 $ genome is here (without overheads and analysis) |
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Term
PINGO: Does the sequence coverage of 1x is usually sufficient for a decent genome assembly? |
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Definition
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Term
PINGO:Does the increasing the sequence coverage increases the sequence quality of contigs? |
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Definition
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Term
PINGO: What is the ratio of sequence coverage and physical coverage? |
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Definition
Sequence coverage is never larger than the physical coverage |
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Term
PINGO:
What does one need to do for physical coverage? |
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Definition
For physical coverage one needs to sequence DNA fragments from both ends |
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Term
PINGO: Why one need to sequence BAC clones from both ends? |
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Definition
Sequencing BAC clones from both ends helps to increase the physical coverage |
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