Genomes and Genes
- Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array dataGaëlle Marenne
Spanish National Cancer Research Center CNIO, Madrid, E 28029, Spain
BMC Genomics 13:326. 2012..Algorithms to identify CNVs through SNP-array platforms are available. The ability to evaluate well-characterized CNVs such as GSTM1 (1p13.3) deletion provides an important opportunity to assess their performance...
- Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?Emmanuelle Genin
Inserm UMR 946, Genetic variability and human diseases, Paris, France
Hum Hered 74:142-52. 2012....
- Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in EuropeEmmanuelle Genin
INSERM U, Paris, France
Orphanet J Rare Dis 6:52. 2011..Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but extremely severe cutaneous adverse drug reactions in which drug-specific associations with HLA-B alleles were described...
- Autism risk assessment in siblings of affected children using sex-specific genetic scoresJerome Carayol
IntegraGen SA, Evry, France
Mol Autism 2:17. 2011..abstract:..
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysisEmmanuelle Genin
Institut National de la Santé et de la Recherche Médicale UMR S946, Univ Paris Diderot, Paris, France
PLoS ONE 8:e61044. 2013..To ascertain the real impact of BANK1 on RA genetic susceptibility, we performed a large meta-analysis including our original data and tested for an epistatic interaction between BANK1 and BLK in RA susceptibility...
- Inbreeding coefficient estimation with dense SNP data: comparison of strategies and application to HapMap IIISteven Gazal
Genetic variability and human diseases, INSERM, U946, Paris, France
Hum Hered 77:49-62. 2014....
- FSuite: exploiting inbreeding in dense SNP chip and exome dataSteven Gazal
INSERM, U946, Genetic variability and human diseases, Paris, 75010, Universite Paris Sud, Kremlin Bicetre, 94270, Fondation Jean Dausset CEPH, Paris, 75010, Universite Paris Diderot, UMR 946, Institut Universitaire d Hematologie, Paris, 75475, INSERM, U1078, Genetique, Génomique fonctionnelle et Biotechnologies, Brest, 29218 and Centre Hospitalier Régional Universitaire de Brest, Brest, 29200, France INSERM, U946, Genetic variability and human diseases, Paris, 75010, Universite Paris Sud, Kremlin Bicetre, 94270, Fondation Jean Dausset CEPH, Paris, 75010, Universite Paris Diderot, UMR 946, Institut Universitaire d Hematologie, Paris
Bioinformatics 30:1940-1. 2014..It also allows the identification of shared regions of homozygosity between affected individuals (homozygosity mapping) that can be used to identify rare recessive mutations involved in monogenic or multifactorial diseases...
- Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?Anne Louise Leutenegger
INSERM, U946, Paris, France
Eur J Hum Genet 19:583-7. 2011..There are thus some regional trends but there are also some important differences between populations within a region. Individual results can be found on the CEPH website at ftp://ftp.cephb.fr/hgdp_hbd/...
- Rare and low frequency variant stratification in the UK population: description and impact on association testsMarie Claude Babron
Inserm UMRS 946, Genetic variability and human diseases, Paris, France
PLoS ONE 7:e46519. 2012..These results call for the need of new methodological developments specifically devoted to address rare variant stratification issues in association tests...
- Comparative power of family-based association strategies to detect disease-causing variants under two-locus modelsMarie Claude Babron
INSERM, UMR S946, Fondation Jean Dausset CEPH, Paris, France Univ Paris Diderot, PRES Sorbonne Paris Cité, Institut Universitaire d Hematologie, UMR S946, Paris, France
Genet Epidemiol 36:848-55. 2012..Because the true genetic model is unknown, we cannot conclude that one design outperforms another. The optimal approach would be the two-step strategy (S3 or S4) as it is often the most powerful, or the second best...
- Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour
INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
Hum Mutat 28:523-4. 2007..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years)...
- Deleterious genetic influence of CX3CR1 genotypes on HIV-1 disease progressionSophie Faure
INSERM U543, Hopital Salpetriere, Paris, France
J Acquir Immune Defic Syndr 32:335-7. 2003..These results may explain the conflicting results published on the impact of CX3CR1 polymorphism in seroconverters...
- Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humansBlandine Patillon
Inserm UMRS 946, Genetic variability and human diseases, Institut Universitaire d Hematologie, Universite Paris Diderot, Paris, France
PLoS ONE 7:e53049. 2012....