human genome project

what scientific and technological developments in the 1970s-80s made the HGP possible

DNA sequencing technologies, sanger sequencing, cloning, automation

How did the map-first, sequence-second approach differ from Celera’s whole-genome method?

Map first s-second: create a physical map of genome, then sequence fragments in an ordered way based on the map

Whole-genome: skip mapping, broke entire genome into random fragments at once, computational assembly to piece them together

Why was sequencing the human genome more difficult than sequencing model organisms?

It us much longer and more complex, large base codes

What were the benefits and limitations of using Sanger sequencing for the HGP?

Benefits: accurate, producing high-quality reads, reliable

Limitations: slow and labor intensive, expensive, reads short

In what ways did automation and computational tools transform the speed and accuracy of genome sequencing?

Automation allowed labs to process larger volumes of DNA, machines performed repetitive sequencing steps faster

Computational tools essential for genome assembly, and error correction + quality control

Why did the competition between HGP and Celera Genomics matter, and how did it end?

Celera wanted to generate the first human genome sequence and sell subscriptions to access their genomic data, ended when draft genome was jointly announced in 2000, HGP finished first high-quality genome

What does it mean that the HGP produced a 'mosaic' reference genome?

The reference genome was made from multiple individuals, so a “mosaic” representation of human DNA

How have newer sequencing methods (post-2003) addressed earlier limitations?

Newer technologies can read longer stretches of DNA, improved genome assembly

-            Can sequence regions that Sanger couldn’t: centromeres and telomeres

-            First human genome in 202

How has the HGP changed the way healthcare professionals think about disease, genetics, and treatment?

Shifted medicine toward genomic and personalized perspective, diseases understood in context of genes, variants, + pathways which lead to precision medicine

what is sanger sequencing?

Method used to determine the order of DNA bases by making DNA copies that stop at specific points, then reading those fragments to find the sequence

How did the 'Bermuda Principles' influence modern genomic research and open science?

by requiring that all human genome sequence data be released publicly within 24 hours.

• set norm for today’s practices