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Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome

Article Abstract:

The interest of the approach by mapping a gene for Taybi-Linder syndrome to chromosome 2q is shown with the use of a key patient with no genealogical information. This could be achieved by estimating inbreeding coefficients from the patients' genomic information and using these estimates to perform homozygosity mapping.

Author: Toutain, Annick, Leutenegger, Anne-Louise, Labalme, Audrey, Genin, Emmanuelle, Steichen, Elisabeth, Clerget-Darpoux, Francoise, Edery, Patrick
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
France, Dwarfism

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Article Abstract:

A genomewide linkage scan is performed using 10-cM-resolution microsatellite markers in order to identify new Meckel syndrome (MKS). The results have identified a fourth locus for MKS (MKS4) and the CEP290 gene, which are responsible for MKS.

Author: Gubler, Marie-Claire, Dumez, Yves, Toutain, Annick, Munnich, Arnold, Lyonnet, Stanislas, Genin, Emmanuelle, Johnson, Colin A., Baala, Lekbir, Saunier, Sophie, Audollent, Sophie, Ozilou, Catherine, Salomon, Remi, Encha-Razavi, Ferechte, Vekemans, Michel, Attie-Bitach, Tania, Martinovic, Jelena, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joelle, Le Merrer, Martine, Meiner, Vardiella, Meir, Karen, Menez, Francoise, Beaufrere, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, MacDonald, Fiona
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Central nervous system diseases, Linkage (Genetics)

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Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components

Article Abstract:

The article discusses about the use of Bayesian mapping for multiple complex traits. Result showed that this technique performs well for mapping multiple quantitative trait loci (QTL).

Author: Hong-Wen Deng, Jianfeng Liu, Yongjun Liu, Xiaogang Liu
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Bayesian statistical decision theory, Bayesian analysis

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Subjects list: Research, Genetic aspects, Chromosome mapping, Quantitative trait loci
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