Human Genome Project

How was generating a reference genome sequence done in the HGP:

1. break genome into large fragments and insert into clones

2. order the clones

3. break individual clones into small pieces

4. generate thousands of sequence reads and assemble sequence of clones

5. assemble sequences of overlapping clones to create reference sequence

How is generating a person's genome done

1. break genome into smaller pieces

2. generate millions of sequence reads

3. align sequence reads to existing reference sequence

4. deduce starting sequence and identify differences from reference sequence

What was the main accomplishment of the HGP: It was the first high quality sequence of >90% of the human genome

What was the biggest problem with sequencing a whole genome in the HGP: cost and quality of the data analysis

• exon sequencing: targeting 1.5% of the whole genome which is 10x cheaper than whole genome sequencing

What is next gen sequencing: uses nanopores to create fewer reads of a longer length for sequencing both DNA and RNA

• what is the challenge of next-gen sequencing: it needs a lot of storage, tens of terabytes are needed