Detalhe da pesquisa
1.
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.
Bioinformatics
; 40(2)2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38269623
2.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131126
3.
Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle.
Pharmacogenomics J
; 22(1): 75-81, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741133
4.
Characterization and visualization of tandem repeats at genome scale.
Nat Biotechnol
; 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168995
5.
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer.
Nat Biotechnol
; 41(2): 232-238, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050551
6.
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Genome Med
; 15(1): 34, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158973
7.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Nat Commun
; 14(1): 3090, 2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248219
8.
A population of descending neurons that regulates the flight motor of Drosophila.
Curr Biol
; 32(5): 1189-1196.e6, 2022 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35090590
9.
Benchmarking challenging small variants with linked and long reads.
Cell Genom
; 2(5)2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36452119
10.
Curated variation benchmarks for challenging medically relevant autosomal genes.
Nat Biotechnol
; 40(5): 672-680, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132260
11.
Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.
PLoS One
; 16(12): e0261170, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34914762
12.
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.
PLoS One
; 15(1): e0226340, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940362
13.
A diploid assembly-based benchmark for variants in the major histocompatibility complex.
Nat Commun
; 11(1): 4794, 2020 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963235
14.
The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis.
Front Genet
; 10: 584, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338105
15.
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Nat Biotechnol
; 37(10): 1155-1162, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406327
16.
Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila.
Elife
; 3: e04580, 2014 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25535794
17.
Immunity regulatory DNAs share common organizational features in Drosophila.
Mol Cell
; 13(1): 19-32, 2004 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-14731391