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HG_II_Lecture_1
Introduction
19
Biology
Graduate
07/09/2014

Additional Biology Flashcards

 


 

Cards

Term

When did human genome progect begin?

When did it end?

Definition

1990 October

 

2003 April

Term
What are the main applications of genomics?
Definition
Genomic medicine: medicine, that involves using patient's genomic information as part of his or her health care.
Term
What are the main steps of genomic research?
Definition
  1. Understanding structure of genomes
  2. Understanding the biology of genomes
  3. Understanding the biology of desease
  4. Advancing the science of medicine
  5. Improving the effectivness of health care
Term
What was human genome project aimed at?
Definition
Understanding the function and the biology of the genome
Term
Outline the main steps of human genome project and when they were performed
Definition

Mapping 1990 - 2000

Sequencing 1998 - 2003

Interpreting 2003+

Term

What is the percentage of human genome, which is considered to be constrained across mammals (functional)?

 

How much is it in base pairs?

Definition

5%

 

150M bp

Term
What is the size of human genome?
Definition
3 B bp
Term
What  percentage of human genome encodes proteins?
Definition
1.5%
Term
How many genes code for proteins?
Definition
18 - 20 K (thousand)
Term
How many proteins are in human body?
Definition
> 22 K
Term
What is the persentage of functional genome?
Definition

3.5%



Functional, but not coding: gene regulatory element, chromosomal functional elements, undiscovered functional elements

Term
What is the frequency of common allelic variants?What is effective size?
Definition

0.05

 

50

Term
What is the frequency of rare variants?What is effective size?
Definition

0.001

 

1.1

Term
What is the main  characteristics of Illuminas HiSeq X Ten?
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)

Term
PINGO: Does the sequence coverage of 1x is usually sufficient for a decent genome assembly?
Definition

No

 

Term
PINGO:Does the increasing the sequence coverage increases the sequence quality of contigs?
Definition

Yes

 

Term
PINGO: What is the ratio of sequence coverage and  physical coverage?
Definition
Sequence coverage is never larger than the physical coverage
Term

PINGO:

What does one need to do for physical coverage?

Definition
For physical coverage one needs to sequence DNA fragments from both ends
Term
PINGO: Why one need to sequence BAC clones from both ends?
Definition
Sequencing BAC clones from both ends helps to increase the physical coverage
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