Chapter 2 Human genome sequencing Flashcards
Name some of the projects that use sequencing
> The International HapMap project focused on variations in genome sequences among populations distributed around the world. It collected many SNPs. Clusters of SNPs that appear to be inherited in tandem are haplotypes.
The 1000 Genomes Project has surpassed the HapMap Project, it has collected complete genome-data and focused on discovering the conditions required to ensure appropriate data quality. Their results included over 2500 individuals. Their goals included sequencing of family groups(including trios, mother, father and child) and sequencing of 1000 protein coding regions in 1000 individuals.
Genomics England has the goal of sequencing 100000 genomes, including tumor cells and healthy ones from cancer patients.
The Personal Genome Project has the goal of supporting developments in genome-informed and medical records of 100000 volunteers.
The US National Institutes of Health is supporting a project to sequence 200000 human genomes
Asia 100K is a similar project
Name some of the smaller cases that use sequencing
> Sequence determination of particular genes is common in clinical settings. For example, the sequencing of breast cancer predisposition genes BRCA1, BRCA2, and PALB2 in cases where family history suggests the possibility of elevated risk. Mutations in these genes are strongly correlated with the early development of breast cancer. Angelina Jolie had a family history of breast cancer and when they sequenced the genes there was a mutation in the BRCA1 gene, so she decided to have a prophylactic double mastectomy and the removal of her ovaries and fallopian tubes.
Several companies offer personal genome sequencing. Many provide sequencing of mtDNA or individual loci in nuclear DNA for tracing of ancestry and reporting of disease risks. It is also used for paternity testing- the application of DNA sequencing to demonstrate legal relationships
A teacher in a secondary school in New Jersey, USA organized a project to analyze DNA samples of the students in her class. This was not full-genome sequencing, but it produced limited genealogy-oriented data. The students compared the results with their own cultural backgrounds.
In 2008, two teenage students checked samples of fish from New York sushi bars, using a genetic fingerprinting technique called DNA broadcasting. They discovered that of the samples they could identify, 25% were mislabeled. These originated from species that were less expensive than those advertised.
In South Africa there were meat labeling cases in 2013.
