- 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:..
- 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...
- 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....