Human Genome Project

Human Genome Project (HGP)

The first high quality sequence of over 90% of the human genome.

Main Accomplishment of the HGP

Sequenced more than 90% of the human genome with high quality.

Biggest problem with sequencing a whole genome in the HGP

Cost and quality of the data analysis.

Exon Sequencing

Targets 1.5% of the whole genome and is 10 times cheaper than whole genome sequencing.

Next Generation Sequencing (NGS)

Uses nanopores to create fewer reads of longer lengths for sequencing DNA and RNA.

Challenge of Next Gen Sequencing

Requires a lot of storage, needing tens of terabytes.

Reference Genome Creation Steps in 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 clones; 5. Assemble sequences of overlapping clones to create reference sequence.

Steps for Generating a Person's Genome

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.