Detalhe da pesquisa
1.
Transcriptome surveillance by selective termination of noncoding RNA synthesis.
Cell
; 155(5): 1075-87, 2013 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24210918
2.
Modeling fragment counts improves single-cell ATAC-seq analysis.
Nat Methods
; 21(1): 28-31, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38049697
3.
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index.
Am J Hum Genet
; 110(12): 2056-2067, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006880
4.
Cellular energy regulates mRNA degradation in a codon-specific manner.
Mol Syst Biol
; 20(5): 506-520, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491213
5.
Deep learning: new computational modelling techniques for genomics.
Nat Rev Genet
; 20(7): 389-403, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971806
6.
Transmicron: accurate prediction of insertion probabilities improves detection of cancer driver genes from transposon mutagenesis screens.
Nucleic Acids Res
; 51(4): e21, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617985
7.
The adapted Activity-By-Contact model for enhancer-gene assignment and its application to single-cell data.
Bioinformatics
; 39(2)2023 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708003
8.
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes.
Basic Res Cardiol
; 117(1): 6, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175464
9.
Predicting mean ribosome load for 5'UTR of any length using deep learning.
PLoS Comput Biol
; 17(5): e1008982, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970899
10.
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Int J Mol Sci
; 23(20)2022 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293220
11.
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.
Am J Hum Genet
; 103(6): 907-917, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503520
12.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet
; 100(1): 151-159, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27989324
13.
Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues.
Mol Syst Biol
; 15(2): e8513, 2019 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30777893
14.
A deep proteome and transcriptome abundance atlas of 29 healthy human tissues.
Mol Syst Biol
; 15(2): e8503, 2019 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30777892
15.
CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice.
Hum Mutat
; 40(9): 1243-1251, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070280
16.
Assessing predictions of the impact of variants on splicing in CAGI5.
Hum Mutat
; 40(9): 1215-1224, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301154
17.
Cis-regulatory elements explain most of the mRNA stability variation across genes in yeast.
RNA
; 23(11): 1648-1659, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28802259
18.
Modeling positional effects of regulatory sequences with spline transformations increases prediction accuracy of deep neural networks.
Bioinformatics
; 34(8): 1261-1269, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155928
19.
GenoGAM 2.0: scalable and efficient implementation of genome-wide generalized additive models for gigabase-scale genomes.
BMC Bioinformatics
; 19(1): 247, 2018 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29945559
20.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778