PCL102H1 Lecture Notes - Lecture 2: Pulmonary Hypertension, Protein C Deficiency, Personal Genome Project
Document Summary
Has 15 rare genetic variants associated with disease but heterozygous for all. Except will tell doctors about polymorphism on chr 1 that predisposes him to blood clots and will take aspirin before long flights. To obtain the genetic sequences of people. Data will be available to researchers and paired with information about the person"s physical attributes, family history, and medical records with the goal of being able to understand how genes interact with environment to produce individuals. To develop precision medicine for each individual. Sequences have to be annotated so participants can understand what the genes mean. Pgp has potential to show when gene variants cause disease and when theyre innocent bystanders. Was able to pin down the genetic cause of a form of mitochondrial myopathy- barth syndrome. Using the participants" genomes as controls in genetic research is a major benefit of the projects because the phenotype data is available. "we"re the largest control study, if you will,"