Detalhe da pesquisa
1.
Rare variant associations with plasma protein levels in the UK Biobank.
Nature
; 622(7982): 339-347, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794183
2.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Nature
; 597(7877): 527-532, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375979
3.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Am J Hum Genet
; 110(3): 487-498, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809768
4.
A minimal role for synonymous variation in human disease.
Am J Hum Genet
; 109(12): 2105-2109, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459978
5.
Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses.
Nucleic Acids Res
; 50(8): 4289-4301, 2022 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474393
6.
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.
Am J Hum Genet
; 106(5): 659-678, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386536
7.
mRNA 3' uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome.
Nature
; 548(7667): 347-351, 2017 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28792939
8.
Exome-Based Rare-Variant Analyses in CKD.
J Am Soc Nephrol
; 30(6): 1109-1122, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31085678
9.
Large-scale analysis of microRNA expression, epi-transcriptomic features and biogenesis.
Nucleic Acids Res
; 45(3): 1079-1090, 2017 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180281
10.
Mirnovo: genome-free prediction of microRNAs from small RNA sequencing data and single-cells using decision forests.
Nucleic Acids Res
; 45(21): e177, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036314
11.
BioPAXViz: a cytoscape application for the visual exploration of metabolic pathway evolution.
Bioinformatics
; 33(9): 1418-1420, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28453679
12.
Chimira: analysis of small RNA sequencing data and microRNA modifications.
Bioinformatics
; 31(20): 3365-7, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26093149
13.
Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.
Sci Adv
; 10(19): eadj1424, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38718126
14.
DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets.
Commun Biol
; 5(1): 1291, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434048
15.
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Sci Adv
; 8(34): eabo6371, 2022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36026442
16.
Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes.
Sci Adv
; 8(46): eadd5430, 2022 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383675
17.
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.
Nat Commun
; 12(1): 1504, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686085
18.
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Commun Biol
; 4(1): 392, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758299
19.
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Circ Genom Precis Med
; 13(6): e003030, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33125268
20.
A programmed wave of uridylation-primed mRNA degradation is essential for meiotic progression and mammalian spermatogenesis.
Cell Res
; 29(3): 221-232, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30617251