אירועים והרצאות בפקולטה למדעי המחשב ע"ש הנרי ומרילין טאוב

Substantial familial aggregation and heritability is observed for a wide range of phenotypes in general human population. Much effort has been made to decipher which specific genetic factors contribute to normal interindividual variability and development of pathologic conditions. The lecture will focus on the workflow of a typical family-based genetic research, illustrated by the association study of RUNX2 polymorphisms and hand bone length and BMD, relevant to osteoporosis. The Program Package MAN for pedigree analysis of quantitative traits and genetic markers in human pedigrees will be presented as well as a number of bioinformatic tools useful within the framework of genetic association studies, i.e. overview of the marker properties and tagging SNP selection (HaploView), marker prioritization (FastSNP, Pupasuite, SNPinfo, RegulatoryGenomics.org, SCAN, mRNA by SNP Browser), analysis of the study results in the genomic context (UCSC genome browser).