Detalhe da pesquisa
1.
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Hum Mutat
; 43(12): 2010-2020, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054330
2.
liqDB: a small-RNAseq knowledge discovery database for liquid biopsy studies.
Nucleic Acids Res
; 47(D1): D113-D120, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30357370
3.
sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression.
Nucleic Acids Res
; 47(W1): W530-W535, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114926
4.
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data.
Comput Struct Biotechnol J
; 21: 4613-4618, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817776
5.
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.
iScience
; 26(1): 105907, 2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647378
6.
From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research.
Life (Basel)
; 12(11)2022 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36431075
7.
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.
Sci Rep
; 12(1): 16132, 2022 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36168029
8.
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
9.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nat Biotechnol
; 40(5): 672-680, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132260
10.
A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.
Sci Rep
; 11(1): 20510, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34654896