Detalhe da pesquisa
1.
Jasmine and Iris: population-scale structural variant comparison and analysis.
Nat Methods;
20(3): 408-417, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36658279
2.
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
medRxiv;
2024 Mar 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38585781
3.
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
Nat Commun;
15(1): 4417, 2024 May 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38789417
4.
The functional impact of rare variation across the regulatory cascade.
Cell Genom;
3(10): 100401, 2023 Oct 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37868038
5.
Benchmarking challenging small variants with linked and long reads.
Cell Genom;
2(5)2022 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36452119
6.
Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED.
Nat Biotechnol;
39(4): 431-441, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33257863
7.
Untargeted mass spectrometry-based metabolomics approach unveils molecular changes in raw and processed foods and beverages.
Food Chem;
302: 125290, 2020 Jan 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31404873