Enhanced protein isoform characterization through long-read proteogenomics.
PMID:35241129
Analysis of Genomic Alternative Splicing Patterns in Rat under Heat Stress Based on RNA-Seq Data.
PMID:35205403
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
PMID:34795304
APPRIS: selecting functionally important isoforms.
PMID:34755885
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.
PMID:34465776
Nanopore sequencing reveals endogenous NMD-targeted isoforms in human cells.
PMID:34389041
ADAR and hnRNPC deficiency synergize in activating endogenous dsRNA-induced type I IFN responses.
PMID:34297039
Assessing conservation of alternative splicing with evolutionary splicing graphs.
PMID:34266979
catRAPID omics v2.0: going deeper and wider in the prediction of protein-RNA interactions.
PMID:34086933
Assessing the functional relevance of splice isoforms.
PMID:34046593
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.
PMID:33836063
Gene Size Matters: An Analysis of Gene Length in the Human Genome.
PMID:33643374
Improving CLIP-seq data analysis by incorporating transcript information.
PMID:33334306
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs.
PMID:33261662
Endogenous retroviruses drive KRAB zinc-finger protein family expression for tumor suppression.
PMID:33087347
SARS-CoV-2 Disrupts Splicing, Translation, and Protein Trafficking to Suppress Host Defenses.
PMID:33080218
Extensive germline genome engineering in pigs.
PMID:32958897
Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.
PMID:32941650
Ribosomal stalk proteins RPLP1 and RPLP2 promote biogenesis of flaviviral and cellular multi-pass transmembrane proteins.
PMID:32890404
The role of exome sequencing in newborn screening for inborn errors of metabolism.
PMID:32778825
Identification and characterization of hippuristanol-resistant mutants reveals eIF4A1 dependencies within mRNA 5' leader regions.
PMID:32766783
Nuclease-mediated depletion biases in ribosome footprint profiling libraries.
PMID:32503920
Zebrafish rbm8a and magoh mutants reveal EJC developmental functions and new 3'UTR intron-containing NMD targets.
PMID:32502192
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
PMID:32487729
Chemical crosslinking enhances RNA immunoprecipitation for efficient identification of binding sites of proteins that photo-crosslink poorly with RNA.
PMID:32467309
Mapping and characterization of structural variation in 17,795 human genomes.
PMID:32460305
tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing.
PMID:32423416
ORF Capture-Seq as a versatile method for targeted identification of full-length isoforms.
PMID:32393825
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
PMID:32284880
Design and analysis of CRISPR-Cas experiments.
PMID:32284587
A benchmark study of ab initio gene prediction methods in diverse eukaryotic organisms.
PMID:32272892
ISOGO: Functional annotation of protein-coding splice variants.
PMID:31974522
Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides.
PMID:31971508
Splice-Junction-Based Mapping of Alternative Isoforms in the Human Proteome.
PMID:31825849
A heterodimer of evolved designer-recombinases precisely excises a human genomic DNA locus.
PMID:31745551
Recurrent functional misinterpretation of RNA-seq data caused by sample-specific gene length bias.
PMID:31714939
Divergent effects of translation termination factor eRF3A and nonsense-mediated mRNA decay factor UPF1 on the expression of uORF carrying mRNAs and ribosome protein genes.
PMID:31619139
Network-based method for drug target discovery at the isoform level.
PMID:31554914
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.
PMID:31413257
Simultaneous RNA purification and size selection using on-chip isotachophoresis with an ionic spacer.
PMID:31328753
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
PMID:31175170
Integrative Analysis of Somatic Mutations in Non-coding Regions Altering RNA Secondary Structures in Cancer Genomes.
PMID:31160636
methyl-ATAC-seq measures DNA methylation at accessible chromatin.
PMID:31160376
SplicedFamAlign: CDS-to-gene spliced alignment and identification of transcript orthology groups.
PMID:30925859
O-GlcNAcylation alters the selection of mRNAs for translation and promotes 4E-BP1-dependent mitochondrial dysfunction in the retina.
PMID:30733333
Intronic CNVs and gene expression variation in human populations.
PMID:30677042
Sequence variation, evolutionary constraint, and selection at the CD163 gene in pigs.
PMID:30572815
Production of Protein-Complex Components Is Stoichiometric and Lacks General Feedback Regulation in Eukaryotes.
PMID:30553725
PAVOOC: designing CRISPR sgRNAs using 3D protein structures and functional domain annotations.
PMID:30445568
GENCODE reference annotation for the human and mouse genomes.
PMID:30357393
The LIN28B-IMP1 post-transcriptional regulon has opposing effects on oncogenic signaling in the intestine.
PMID:30068703
Translational Control through Differential Ribosome Pausing during Amino Acid Limitation in Mammalian Cells.
PMID:30029003
TASEP modelling provides a parsimonious explanation for the ability of a single uORF to derepress translation during the integrated stress response.
PMID:29932418
Exploring the functional impact of alternative splicing on human protein isoforms using available annotation sources.
PMID:29931155
Maternal 5mCpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.
PMID:29545821
SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification.
PMID:29440222
DE-kupl: exhaustive capture of biological variation in RNA-seq data through k-mer decomposition.
PMID:29284518
Alternative start and termination sites of transcription drive most transcript isoform differences across human tissues.
PMID:29202200
Am I ready for CRISPR? A user's guide to genetic screens.
PMID:29199283
Framework and resource for more than 11,000 gene-transcript-protein-reaction associations in human metabolism.
PMID:29078384
APPRIS 2017: principal isoforms for multiple gene sets.
PMID:29069475
Alternative RNA Splicing in the Pathogenesis of Liver Disease.
PMID:28680417
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
PMID:28497567
Transcription factor-DNA binding: beyond binding site motifs.
PMID:28359978
Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx.
PMID:27964752
Ensembl 2017.
PMID:27899575
Plastid: nucleotide-resolution analysis of next-generation sequencing and genomics data.
PMID:27875984
The BLUEPRINT Data Analysis Portal.
PMID:27863955
Pre-mRNA mis-splicing of sarcomeric genes in heart failure.
PMID:27825848
The state of play in higher eukaryote gene annotation.
PMID:27773922
Alternative Splicing May Not Be the Key to Proteome Complexity.
PMID:27712956
The Ensembl Variant Effect Predictor.
PMID:27268795
CRISPR knockout screening outperforms shRNA and CRISPRi in identifying essential genes.
PMID:27111720
Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
PMID:27100087
Towards improved genome-scale metabolic network reconstructions: unification, transcript specificity and beyond.
PMID:26615025
Potential Gene Interactions in the Cell Cycles of Gametes, Zygotes, Embryonic Stem Cells and the Development of Cancer.
PMID:26442212
Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans.
PMID:26297486
Identifying and characterising key alternative splicing events in Drosophila development.
PMID:26275604
Functional Networks of Highest-Connected Splice Isoforms: From The Chromosome 17 Human Proteome Project.
PMID:26216192
Creating reference gene annotation for the mouse C57BL6/J genome assembly.
PMID:26187010
Tissue-Specific Evolution of Protein Coding Genes in Human and Mouse.
PMID:26121354
Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.
PMID:26110515
Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level.
PMID:26061177
APPRIS WebServer and WebServices.
PMID:25990727
MIsoMine: a genome-scale high-resolution data portal of expression, function and networks at the splice isoform level in the mouse.
PMID:25953081
miRGate: a curated database of human, mouse and rat miRNA-mRNA targets.
PMID:25858286
Structure-PPi: a module for the annotation of cancer-related single-nucleotide variants at protein-protein interfaces.
PMID:25765346
Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1.
PMID:25744370
Most highly expressed protein-coding genes have a single dominant isoform.
PMID:25732134
Revisiting the identification of canonical splice isoforms through integration of functional genomics and proteomics evidence.
PMID:25265570
Analysis of stop-gain and frameshift variants in human innate immunity genes.
PMID:25058640
Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes.
PMID:24939910
Systematically differentiating functions for alternatively spliced isoforms through integrating RNA-seq data.
PMID:24244129
Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene.
PMID:23815980
The alternative heart: impact of alternative splicing in heart disease.
PMID:23775418
Alternative splicing for diseases, cancers, drugs, and databases.
PMID:23766705