“Where is the missing heritability?” is a question asked frequently in genetic research, usually in the context of diseases that have large heritability estimates, say 60-80%, and yet where only perhaps 5-10% of that heritability has been found. The difficulty seems to come down to the common disease/common variant hypothesis not holding up. Or perhaps more accurately, that the frequency… Read more »
Including the completion of the Human Genome Project in 2003, scientists have created whole genome sequence maps for over 1,000 species. From maize to oysters, the quest to investigate different species’ genetic code continues. Mapping is the “first step” that provides a baseline for further study into differences between species, the occurrence of certain diseases, and the prevalence of traits… Read more »
Accuracy and completeness of genotype data are among the most important factors for a successful genome-wide association study (GWAS), and must not be taken lightly. The Golden Helix team is always on the lookout for methods to improve data quality, and we have recently found the BEAGLE and BEAGLECALL software packages to be very useful in this regard. BEAGLE is… Read more »
As Andy Ferrin and I drove the five-hour car ride home from a cytogenetics conference, we had a lot of time to reflect on the persistent themes we heard in presentations and dialog among conference attendees. Taking somewhat of an outsider view, we traced each complaint, each sigh of frustration, and the unverbalized assumptions behind opposing viewpoints, and they all… Read more »
In the paper Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia, Todd Lencz, Ph.D. introduced a new way of doing association testing using SNP microarray platforms. The method, which he termed “whole genome homozygosity association”, first identifies patterned clusters of SNPs demonstrating extended homozygosity (runs of homozygosity or “ROHs”) and then employs both genome-wide and regionally-specific statistical tests… Read more »
