Detalhe da pesquisa
1.
Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
BMC Bioinformatics
; 22(1): 85, 2021 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33627090
2.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Nat Med
; 25(6): 911-919, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160820