Detalhe da pesquisa
1.
A critical spotlight on the paradigms of FFPE-DNA sequencing.
Nucleic Acids Res
; 51(14): 7143-7162, 2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37351572
2.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
3.
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.
Hum Mutat
; 37(12): 1263-1271, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604516
4.
Population genetics and phylogeographic history of the insular lizard Podarcis lilfordi (Gunther, 1874) from the Balearic Islands based on genome-wide polymorphic data.
Ecol Evol
; 14(5): e11407, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38799398
5.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Cell Genom
; 2(5)2022 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35720974
6.
The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828430
7.
Exome-wide rare variant analysis in familial essential tremor.
Parkinsonism Relat Disord
; 82: 109-116, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33279834
8.
Framework for quality assessment of whole genome cancer sequences.
Nat Commun
; 11(1): 5040, 2020 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33028839
9.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Sci Rep
; 7(1): 12288, 2017 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947817
10.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Sci Rep
; 7: 37984, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050010
11.
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Sci Rep
; 11(1): 18146, 2021 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34493777