Literature DB >> 18988837

Genetic mapping in human disease.

David Altshuler1, Mark J Daly, Eric S Lander.   

Abstract

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.

Entities:  

Mesh：

Year:  2008        PMID： 18988837      PMCID： PMC2694957          DOI： 10.1126/science.1156409

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  133 in total

1.  Genomic control for association studies.

Authors:  B Devlin; K Roeder
Journal:  Biometrics       Date:  1999-12       Impact factor: 2.571

Review 2.  How many diseases does it take to map a gene with SNPs?

Authors:  K M Weiss; J D Terwilliger
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

3.  An STS-based map of the human genome.

Authors:  T J Hudson; L D Stein; S S Gerety; J Ma; A B Castle; J Silva; D K Slonim; R Baptista; L Kruglyak; S H Xu; X Hu; A M Colbert; C Rosenberg; M P Reeve-Daly; S Rozen; L Hui; X Wu; C Vestergaard; K M Wilson; J S Bae; S Maitra; S Ganiatsas; C A Evans; M M DeAngelis; K A Ingalls; R W Nahf; L T Horton; M O Anderson; A J Collymore; W Ye; V Kouyoumjian; I S Zemsteva; J Tam; R Devine; D F Courtney; M T Renaud; H Nguyen; T J O'Connor; C Fizames; S Fauré; G Gyapay; C Dib; J Morissette; J B Orlin; B W Birren; N Goodman; J Weissenbach; T L Hawkins; S Foote; D C Page; E S Lander
Journal:  Science       Date:  1995-12-22       Impact factor: 47.728

4.  Complement factor H variant increases the risk of age-related macular degeneration.

Authors:  Jonathan L Haines; Michael A Hauser; Silke Schmidt; William K Scott; Lana M Olson; Paul Gallins; Kylee L Spencer; Shu Ying Kwan; Maher Noureddine; John R Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A Postel; Margaret A Pericak-Vance
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

Review 5.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

6.  Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors:  Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

7.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

8.  Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Authors:  Sekar Kathiresan; Olle Melander; Candace Guiducci; Aarti Surti; Noël P Burtt; Mark J Rieder; Gregory M Cooper; Charlotta Roos; Benjamin F Voight; Aki S Havulinna; Björn Wahlstrand; Thomas Hedner; Dolores Corella; E Shyong Tai; Jose M Ordovas; Göran Berglund; Erkki Vartiainen; Pekka Jousilahti; Bo Hedblad; Marja-Riitta Taskinen; Christopher Newton-Cheh; Veikko Salomaa; Leena Peltonen; Leif Groop; David M Altshuler; Marju Orho-Melander
Journal:  Nat Genet       Date:  2008-01-13       Impact factor: 38.330

9.  Low nucleotide diversity in man.

Authors:  W H Li; L A Sadler
Journal:  Genetics       Date:  1991-10       Impact factor: 4.562
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  591 in total

1.  Genetic effects of adiponectin single nucleotide polymorphisms on the clustering of metabolic risk factors in young Korean adults.

Authors:  Ji-Young Lee; Jin-Kyung Cho; Hye-Ryun Hong; Young-Yoon Jin; Hyun-Sik Kang
Journal:  Eur J Appl Physiol       Date:  2011-06-01       Impact factor: 3.078

Review 2.  Genome-wide association studies of chronic kidney disease: what have we learned?

Authors:  Conall M O'Seaghdha; Caroline S Fox
Journal:  Nat Rev Nephrol       Date:  2011-12-06       Impact factor: 28.314

3.  [Genetics of common chronic inflammatory skin diseases : An update on atopic dermatitis and psoriasis].

Authors:  E Rodríguez; K Eyerich; S Weidinger
Journal:  Hautarzt       Date:  2011-02       Impact factor: 0.751

Review 4.  Software for systems biology: from tools to integrated platforms.

Authors:  Samik Ghosh; Yukiko Matsuoka; Yoshiyuki Asai; Kun-Yi Hsin; Hiroaki Kitano
Journal:  Nat Rev Genet       Date:  2011-11-03       Impact factor: 53.242

5.  Giving and withholding of information following genomic screening: challenges identified in a study of primary care physicians in Estonia.

Authors:  Liis Leitsalu; Laura Hercher; Andres Metspalu
Journal:  J Genet Couns       Date:  2011-12-08       Impact factor: 2.537

6.  Detecting genome-wide epistases based on the clustering of relatively frequent items.

Authors:  Minzhu Xie; Jing Li; Tao Jiang
Journal:  Bioinformatics       Date:  2011-11-03       Impact factor: 6.937

7.  Genotype calling from next-generation sequencing data using haplotype information of reads.

Authors:  Degui Zhi; Jihua Wu; Nianjun Liu; Kui Zhang
Journal:  Bioinformatics       Date:  2012-01-27       Impact factor: 6.937

8.  A novel genome-information content-based statistic for genome-wide association analysis designed for next-generation sequencing data.

Authors:  Li Luo; Yun Zhu; Momiao Xiong
Journal:  J Comput Biol       Date:  2012-05-31       Impact factor: 1.479

Review 9.  Epigenetic inheritance of disease and disease risk.

Authors:  Johannes Bohacek; Isabelle M Mansuy
Journal:  Neuropsychopharmacology       Date:  2012-07-11       Impact factor: 7.853

10.  Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death.

Authors:  Leonardo Tamariz; Javier Balda; Dennise Pareja; Ana Palacio; Robert J Myerburg; Douglas Conway; Lea Davis; Jeffrey J Goldberger
Journal:  Am J Cardiol       Date:  2019-03-20       Impact factor: 2.778
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