Detalhe da pesquisa
1.
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Hum Mutat
; 42(1): 3-7, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252176
2.
Array-based dynamic allele specific hybridization (Array-DASH): Optimization-free microarray processing for multiple simultaneous genomic assays.
Anal Biochem
; 626: 114124, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607059
3.
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Hum Mutat
; 39(1): 61-68, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967166
4.
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.
Hum Mutat
; 39(12): 1803-1813, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30129167
5.
Ten simple rules for teaching applied programming in an authentic and immersive online environment.
PLoS Comput Biol
; 17(8): e1009184, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34351897
6.
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
medRxiv
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38854034
7.
A mechanistic basis for amplification differences between samples and between genome regions.
BMC Genomics
; 13: 455, 2012 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-22950736
8.
The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt.
Sci Rep
; 10(1): 17037, 2020 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046824
9.
SMYD2 promoter DNA methylation is associated with abdominal aortic aneurysm (AAA) and SMYD2 expression in vascular smooth muscle cells.
Clin Epigenetics
; 10: 29, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507647