Detalhe da pesquisa
1.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141892
2.
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Pharmacogenomics J
; 22(5-6): 258-263, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590072
3.
Experience and expectations of pharmacogenetic tests in France.
Therapie
; 2023 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516659
4.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450799
5.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Front Cell Dev Biol
; 11: 1021920, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36926521
6.
Detection of the novel allele, HLA-A*32:165, in a French individual by next-generation sequencing.
HLA
; 100(6): 631-632, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998064
7.
Detection of relevant pharmacogenetic information through exome sequencing in oncology.
Pharmacogenomics
; 23(14): 759-770, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043386