Detalhe da pesquisa
1.
Sequencing and characterizing short tandem repeats in the human genome.
Nat Rev Genet
; 2024 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38366034
2.
The landscape of genomic structural variation in Indigenous Australians.
Nature
; 624(7992): 602-610, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38093003
3.
The retroelement Lx9 puts a brake on the immune response to virus infection.
Nature
; 608(7924): 757-765, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35948641
4.
Simulation of nanopore sequencing signal data with tunable parameters.
Genome Res
; 2024 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38692839
5.
Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35074916
6.
HIVepsilon-seq-scalable characterization of intact persistent proviral HIV reservoirs in women.
J Virol
; 97(11): e0070523, 2023 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37843370
7.
Accelerated nanopore basecalling with SLOW5 data format.
Bioinformatics
; 39(6)2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37252813
8.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38258669
9.
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
Cerebellum
; 2024 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38760634
10.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
J Peripher Nerv Syst
; 2024 Jun 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38860315
11.
Two transcriptionally distinct pathways drive female development in a reptile with both genetic and temperature dependent sex determination.
PLoS Genet
; 17(4): e1009465, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33857129
12.
New chromosome-scale genomes provide insights into marine adaptations of sea snakes (Hydrophis: Elapidae).
BMC Biol
; 21(1): 284, 2023 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38066641
13.
Gene expression of male pathway genes sox9 and amh during early sex differentiation in a reptile departs from the classical amniote model.
BMC Genomics
; 24(1): 243, 2023 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37147622
14.
InterARTIC: an interactive web application for whole-genome nanopore sequencing analysis of SARS-CoV-2 and other viruses.
Bioinformatics
; 38(5): 1443-1446, 2022 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34908106
15.
Reference standards for next-generation sequencing.
Nat Rev Genet
; 18(8): 473-484, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28626224
16.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 120-126, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35224818
17.
The Dimensions, Dynamics, and Relevance of the Mammalian Noncoding Transcriptome.
Trends Genet
; 33(7): 464-478, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28535931
18.
Representing genetic variation with synthetic DNA standards.
Nat Methods
; 13(9): 784-91, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27502217
19.
Spliced synthetic genes as internal controls in RNA sequencing experiments.
Nat Methods
; 13(9): 792-8, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27502218
20.
A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics.
Lancet
; 400(10353): 691-692, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36030812