Literature DB >> 9806453

Population genomics: laying the groundwork for genetic disease modeling and targeting.

J Gulcher1, K Stefansson.   

Abstract

The family has proven the most appropriate unit with which to study Mendelian diseases. There are, however, certain limitations on the use of the family as a fundamental unit in the study of common diseases, most of which are complex genetic diseases. The groups that are most likely to yield the genetics of complex diseases are isolated populations with strong founder effects. Therefore, access to such populations is proving to be a precious resource in the work on the genetics of common diseases. The Icelandic population is an excellent population for the study of the genetics of common diseases; it is genetically homogeneous, with founder effects for many traits, and the genealogy of the entire nation is well documented back to the founding days. Furthermore, the nature of the Icelandic national health care system facilitates the assignment of phenotypes in the search for disease genes. Decode Genetics has begun to study of the genetics of 20 of the most common diseases in the Western parts of the world. The company has placed the groundwork for the construction of an encrypted database with information on the health care of the entire nation, genealogy of the entire nation, genotyping information with high density of markers on a large part of the nation (including typing for known disease genes), and resource use in the Icelandic health care system. The plan is to build the database with approval of participating individuals as well as Icelandic government and health care officials. The database will be used to model health care as viewed in the context of genetic predisposition to the development of disease. The database will also be used in the search for drug targets in complex diseases and in the solution of pharmacogenomic problems. Basing the company in Iceland directly benefits the population in terms of employment and return on investment as well as providing the health care system with an information resource which may be used in preventive medicine and in the optimization of health care in Iceland.

Entities:  

Mesh:

Year:  1998        PMID: 9806453     DOI: 10.1515/CCLM.1998.089

Source DB:  PubMed          Journal:  Clin Chem Lab Med        ISSN: 1434-6621            Impact factor:   3.694


  23 in total

1.  Using quality measures to facilitate allele calling in high-throughput genotyping.

Authors:  B Pálsson; F Pálsson; M Perlin; H Gudbjartsson; K Stefánsson; J Gulcher
Journal:  Genome Res       Date:  1999-10       Impact factor: 9.043

2.  A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.

Authors:  Ari Karason; Johann E Gudjonsson; Ruchi Upmanyu; Arna A Antonsdottir; Valdimar B Hauksson; E Hjaltey Runasdottir; Hjortur H Jonsson; Daniel F Gudbjartsson; Michael L Frigge; Augustine Kong; Kari Stefansson; Helgi Valdimarsson; Jeffrey R Gulcher
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

3.  A major susceptibility gene for asthma maps to chromosome 14q24.

Authors:  Hakon Hakonarson; Unnur S Bjornsdottir; Eva Halapi; Snaebjorn Palsson; Elva Adalsteinsdottir; David Gislason; Gudmundur Finnbogason; Thorarinn Gislason; Kristleifur Kristjansson; Thor Arnason; Illugi Birkisson; Michael L Frigge; Augustine Kong; Jeffrey R Gulcher; Kari Stefansson
Journal:  Am J Hum Genet       Date:  2002-07-15       Impact factor: 11.025

4.  A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes.

Authors:  Agnar Helgason; Birgir Hrafnkelsson; Jeffrey R Gulcher; Ryk Ward; Kári Stefánsson
Journal:  Am J Hum Genet       Date:  2003-04-29       Impact factor: 11.025

5.  Genome-wide association studies and beyond.

Authors:  John S Witte
Journal:  Annu Rev Public Health       Date:  2010       Impact factor: 21.981

6.  Development of a large-scale de-identified DNA biobank to enable personalized medicine.

Authors:  D M Roden; J M Pulley; M A Basford; G R Bernard; E W Clayton; J R Balser; D R Masys
Journal:  Clin Pharmacol Ther       Date:  2008-05-21       Impact factor: 6.875

7.  Localization of a gene for migraine without aura to chromosome 4q21.

Authors:  Asgeir Björnsson; Grétar Gudmundsson; Einar Gudfinnsson; María Hrafnsdóttir; John Benedikz; Svanhildur Skúladóttir; Kristleifur Kristjánsson; Michael L Frigge; Augustine Kong; Kári Stefánsson; Jeffrey R Gulcher
Journal:  Am J Hum Genet       Date:  2003-09-25       Impact factor: 11.025

8.  Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3.

Authors:  Stefán Einar Stefánsson; Helgi Jónsson; Thorvaldur Ingvarsson; Ileana Manolescu; Hjörtur H Jónsson; Gudbjörg Olafsdóttir; Ebba Pálsdóttir; Gerdur Stefánsdóttir; Gudfinna Sveinbjörnsdóttir; Michael L Frigge; Augustine Kong; Jeffrey R Gulcher; Kári Stefánsson
Journal:  Am J Hum Genet       Date:  2003-05-07       Impact factor: 11.025

9.  A heritable predisposition to pituitary tumors.

Authors:  William T Couldwell; Lisa Cannon-Albright
Journal:  Pituitary       Date:  2010-06       Impact factor: 4.107

10.  Mutation history of the roma/gypsies.

Authors:  Bharti Morar; David Gresham; Dora Angelicheva; Ivailo Tournev; Rebecca Gooding; Velina Guergueltcheva; Carolin Schmidt; Angela Abicht; Hanns Lochmuller; Attila Tordai; Lajos Kalmar; Melinda Nagy; Veronika Karcagi; Marc Jeanpierre; Agnes Herczegfalvi; David Beeson; Viswanathan Venkataraman; Kim Warwick Carter; Jeff Reeve; Rosario de Pablo; Vaidutis Kucinskas; Luba Kalaydjieva
Journal:  Am J Hum Genet       Date:  2004-08-20       Impact factor: 11.025

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.