PUBLIC RELEASE DATE: 8-Oct-2014 Contact: Robin Dutcher robin.Dutcher@hitchcock.org 603-653-9056 The Geisel School of Medicine at Dartmouth Lebanon, NH, 10/8/14 To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014. Reproducibility rates of SNPs based solely on P values is low. Dartmouth authors' analysis of GWAS studies published in Nature Genetics showed a 1-5 percent replication rate. "It is important to improve our ability to select SNPs for validation using a formalized process. In this paper, we propose a combination of traits that improve replication success," said first author Ivan P. Gorlov, PhD, DSC, associate professor of Community and Family Medicine, Geisel School of Medicine at Dartmouth. The team assigned a value of zero or one to nine different predictors. To compute the Replication Score (RS), one totals the individual scores for all significant predictors. The predictors include "Online Mendelian Inheritance in Man" (OMIM, a list of genetically caused diseases), receptors, kinases, growth factors, transcription factors, tissue specific, plasma membrane localization, nuclear localization and conversation … Continue reading →

Contact Information Available for logged-in reporters only Newswise To reduce false positives when identifying genetic variations associated with human disease through genome-wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014. Reproducibility rates of SNPs based solely on P values is low. Dartmouth authors analysis of GWAS studies published in Nature Genetics showed a 1-5 percent replication rate. It is important to improve our ability to select SNPs for validation using a formalized process. In this paper, we propose a combination of traits that improve replication success, said first author Ivan P. Gorlov, PhD, DSC, associate professor of Community and Family Medicine, Geisel School of Medicine at Dartmouth. The team assigned a value of zero or one to nine different predictors. To compute the Replication Score (RS), one totals the individual scores for all significant predictors. The predictors include Online Mendelian Inheritance in Man (OMIM, a list of genetically caused diseases), receptors, kinases, growth factors, transcription factors, tissue specific, plasma membrane localization, nuclear localization and conversation index. The authors provided detailed information to construct the RS in … Continue reading →

Icelanders love keeping track of how they're related, which has made them "the world champions of human genetics. A commercial for an Icelandic phone company from a few years ago depicted a couple waking up after a one-night stand. They both pick up their smart phones. They both log into a family-tree website, Islendingabok. And thats where things get awkward. There are only 320,000 people who live in Iceland, and most are descended from a small clan of Celtic and Viking settlers. Thus, many Icelanders are distant (or close) relatives. Sometimes too close. The desire to avoid unwitting incestuous pairings at one point even spawned an app, created by a group of engineering students at the University of Iceland, that allows its users to bump their phones together to determine whether they share a common ancestor. (Tag line: Bump in the app before you bump in bed.") Concerns about wading into the shallow end of the gene pool are just a small part of the Icelandic obsession with genealogy. As Iva Skoch explained in Global Post, when two Icelanders meet, the first question is usually, "Hverra manna ert bu?" (Who are your people?) Bookstores are stocked with thick volumes on … Continue reading →