3. Clinical Sequencing Initiatives

Genome wide association study (GWAS)

Research method to identify genetic variants associated with traits by scanning genomes from many individuals

Whole genome sequencing (WGS)

Method to determine the order of bases of an individual’s entire genome

Exome

Part of the genome consisting of all exons

Genome

The complete set of DNA, including all genes and non-coding sequences, in an organism

Exon

Coding segment of a gene that is retained in the final RNA after splicing

Phenome

The sum of an individual’s phenotypic traits

Quantative trait locus (QTL)

A region of DNA associated with a particular phenotypic trait

Candidate gene

A gene believed to be related to a particular trait or phenotype. Suspected due to genomic location or known function

Risk Allele

A variant of a gene that increases the likelihood of developing a disease or trait

Single nucleotide polymorphism (SNP)

A single base-pair difference in the DNA of an individual

Copy number variant

A segment of DNA that varies in copy number among individuals, affecting genome structure

3 Steps of sequencing

1 - PCR

2 - size separation

3 - laser excitation and detection

What are the pros of next generation sequencing?

Faster, greater scale and cheaper

Why is clinical sequencing carried out?

Comparing the genomes of health and sick individuals