Why sequence the human genome

Question 1

why was the human genome sequenced

Answer 1

1. identify all human genomes and their roles
2. analyze genetic variation among humans
3. sequence the genomes of several model organisms used in genetics
4. develop new sequencing techniques and computations analysis
5. to share genome information with scientists and the general public as fast as possible

Question 2

what is a genome

Answer 2

a complete set of DNA of ana organism, including all its genetics

Question 3

what is genomics

Answer 3

the study of genomes

Question 4

what are key findings of the Human Genome

Answer 4

1. There are fewer genes than expected
2. Less than 2% of our genome codes for
   proteins
3. The genome is dynamic
4. We still don’t know what many of our protein
   coding genes do
5. Most human genes are related to those of
   other animals
6. All humans are 99.9% similar at sequence level

Question 5

what have they identified so far about the human protein coding genes and their roles

Answer 5

1. define a gene and search for things that look like genes in sequence
2. less than 2% are coding sequences (exons)
3. 20% are introns
4. there are more of less 20 000 genes
5. many (about 20%) still have an unknown function

Question 6

human genomes are 99.99% the same, so what does that little bit of difference mean

Answer 6

there is still a lot of variation between humans, which is important

Question 7

how can that 0.01% change range between humans

Answer 7

can range from single base to chromosome arrangements

Question 8

what are single nucleotide polymorphisms (SNPs)

Answer 8

are sites in the DNA that commonly vary within a population

Question 9

how common are SNPs

Answer 9

around 1 in every 300 nucleotides

Question 10

where does an individual get their SNPs from

Answer 10

mostly from their parents

Question 11

SNPs don’t do anything, so why are they still important

Answer 11

they are inherited variants which can tell a lot about your common variants as the diversity in genome sequencing adds to variation on record

Question 12

when analyzing common variants (genotyping), what can it tell you

Answer 12

1. who you are related too
2. where (some of) your ancestors come from
3. disease risk/association (masked data outside the USA)
4. if you will lose your hair
5. your muscle type
6. how you may respond to drugs
7. data can also be used in crime solving

Question 13

what does SNPs reveal about of our ancestral species

Answer 13

that interbreeding between them and other hominins occurred

Question 14

what are short tandem repeats (STRs)

Answer 14

repeats of 2-5 nucleotides, found in specific regions of genome

Question 15

are the 2 alleles a person inherits from each parent the same

Answer 15

no - they can have different lengths

Question 16

what can STRs be used for

Answer 16

the create genetic profiles or DNA fingerprints

Question 17

what are InDels

Answer 17

small insertions or deletions

Question 18

what is a common disease of InDels

Answer 18

the genetic disease Cystic Fibrosis - which is caused by CFTR deltaf508 which is a 3 nucleotide deletion

Question 19

what type of variant is copy number variants

Answer 19

structural variant

Question 20

what are copy number variants (CNVs)

Answer 20

chunks of DNA (more than 500 base pairings) that are present at different amounts of copy numbers relative to a reference genome

Question 21

what can be the cause of CNVs

Answer 21

deletion or duplication

Question 22

how big can CNVs span

Answer 22

can span over multiple genes

Question 23

how many CNVs can be found between and within human genes

Answer 23

10 000 CNVs

Question 24

what are the genes associated with that are found in CNVs

Answer 24

sensory perception and immunity