| scholarly article | Q13442814 |
| P50 | author | Stephen W. Scherer | Q7610775 |
| Brendan J. Frey | Q18684996 | ||
| Benjamin J. Blencowe | Q63212972 | ||
| Quaid D Morris | Q63646478 | ||
| Daniele Merico | Q89518828 | ||
| Babak Alipanahi | Q42558528 | ||
| Hamed S. Najafabadi | Q42558534 | ||
| Ryan Yuen | Q42890423 | ||
| Adrian Robert Krainer | Q40473018 | ||
| Yoseph Barash | Q42558522 | ||
| P2093 | author name string | Timothy R Hughes | |
| Yimin Hua | |||
| Serge Gueroussov | |||
| Nebojsa Jojic | |||
| Leo J Lee | |||
| Hannes Bretschneider | |||
| Hui Y Xiong | |||
| P2860 | cites work | AVISPA: a web tool for the prediction and analysis of alternative splicing | Q21183995 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics | Q22065599 | ||
| Potential etiologic and functional implications of genome-wide association loci for human diseases and traits | Q22066284 | ||
| An integrated encyclopedia of DNA elements in the human genome | Q22122150 | ||
| A high-resolution map of human evolutionary constraint using 29 mammals | Q22122167 | ||
| Neuroligins and neurexins link synaptic function to cognitive disease | Q22251092 | ||
| Functional impact of global rare copy number variation in autism spectrum disorders | Q24596191 | ||
| Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes | Q24596441 | ||
| dbSNP: the NCBI database of genetic variation | Q24608672 | ||
| Dynamic integration of splicing within gene regulatory pathways | Q26852632 | ||
| Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals | Q28299787 | ||
| A genome-wide scan for common alleles affecting risk for autism | Q28943508 | ||
| De Novo Gene Disruptions in Children on the Autistic Spectrum | Q29394534 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Transcriptomic analysis of autistic brain reveals convergent molecular pathology | Q29614877 | ||
| Relative impact of nucleotide and copy number variation on gene expression phenotypes | Q29614883 | ||
| A general framework for estimating the relative pathogenicity of human genetic variants | Q29615730 | ||
| Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting | Q29616013 | ||
| The evolution of gene expression levels in mammalian organs | Q29617170 | ||
| Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer | Q57569926 | ||
| Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds | Q73115539 | ||
| Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'. | Q42753493 | ||
| Bayesian prediction of tissue-regulated splicing using RNA sequence and cellular context | Q48120688 | ||
| Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. | Q48769843 | ||
| Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers | Q55554493 | ||
| The evolutionary landscape of alternative splicing in vertebrate species | Q56894874 | ||
| Evolution and functional impact of rare coding variation from deep sequencing of human exomes | Q29617587 | ||
| Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. | Q30379599 | ||
| The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders | Q30559475 | ||
| In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. | Q30826056 | ||
| An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers | Q33249150 | ||
| Genomic features defining exonic variants that modulate splicing | Q33861632 | ||
| Deciphering the splicing code | Q34022324 | ||
| A compendium of RNA-binding motifs for decoding gene regulation. | Q34357005 | ||
| Transcriptome and genome sequencing uncovers functional variation in humans | Q34371227 | ||
| Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. | Q34768428 | ||
| Assessment of computational methods for predicting the effects of missense mutations in human cancers | Q34790059 | ||
| From DNA sequence to transcriptional behaviour: a quantitative approach | Q34985690 | ||
| An intronic element contributes to splicing repression in spinal muscular atrophy. | Q35652570 | ||
| Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database | Q35940640 | ||
| A genotype resource for postmortem brain samples from the Autism Tissue Program | Q36160501 | ||
| Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice | Q36718923 | ||
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing | Q37083418 | ||
| Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics | Q37254403 | ||
| MBNL proteins repress ES-cell-specific alternative splicing and reprogramming. | Q37601795 | ||
| Predicting the diagnosis of autism spectrum disorder using gene pathway analysis | Q37663731 | ||
| Genetic architecture in autism spectrum disorder | Q37998609 | ||
| Exon identity crisis: disease-causing mutations that disrupt the splicing code | Q38181233 | ||
| Evolving concepts on human SMN pre-mRNA splicing. | Q38300535 | ||
| Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls | Q38343206 | ||
| Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair | Q39695410 | ||
| MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing | Q40621425 | ||
| The Human Gene Mutation Database: 2008 update | Q41809836 | ||
| P433 | issue | 6218 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1254806 | |
| P577 | publication date | 2014-12-18 | |
| P1433 | published in | Science | Q192864 |
| P1476 | title | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease | |
| P478 | volume | 347 |
| Q30401377 | A Bioinformatics-Based Alternative mRNA Splicing Code that May Explain Some Disease Mutations Is Conserved in Animals |
| Q33653654 | A Comprehensive Analysis of Alternative Splicing in Paleopolyploid Maize |
| Q92824666 | A Computational Analysis of Alternative Splicing across Mammalian Tissues Reveals Circadian and Ultradian Rhythms in Splicing Events |
| Q90025164 | A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions |
| Q88653179 | A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies |
| Q38657549 | A deep learning framework for financial time series using stacked autoencoders and long-short term memory |
| Q90122737 | A fully automated hybrid human sperm detection and classification system based on mobile-net and the performance comparison with conventional methods |
| Q36627944 | A genome landscape of SRSF3-regulated splicing events and gene expression in human osteosarcoma U2OS cells |
| Q90929527 | A guide to deep learning in healthcare |
| Q41510811 | A new role for FBP21 as regulator of Brr2 helicase activity |
| Q36709959 | A new view of transcriptome complexity and regulation through the lens of local splicing variations |
| Q47305691 | A non-coding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. |
| Q61804267 | A novel phenotype with splicing mutation identified in a Chinese family with desminopathy |
| Q38689144 | A proteogenomic approach to understand splice isoform functions through sequence and expression-based computational modeling |
| Q64122110 | A sequence-based, deep learning model accurately predicts RNA splicing branchpoints |
| Q92846253 | A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease |
| Q91682050 | A universal SNP and small-indel variant caller using deep neural networks |
| Q47129855 | ASpedia: a comprehensive encyclopedia of human alternative splicing |
| Q47577478 | Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome. |
| Q92304502 | Activation of cryptic splice sites in three patients with chronic granulomatous disease |
| Q39056768 | Activation-Dependent TRAF3 Exon 8 Alternative Splicing Is Controlled by CELF2 and hnRNP C Binding to an Upstream Intronic Element |
| Q92365819 | Adhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases |
| Q41691546 | Against all odds: blended phenotypes of three single-gene defects |
| Q36296580 | Alternate splicing of transcripts shape macrophage response to Mycobacterium tuberculosis infection |
| Q54944942 | Alternative Splicing in Neurogenesis and Brain Development. |
| Q39043804 | Alternative splicing and the evolution of phenotypic novelty |
| Q101409818 | Alternative splicing landscape of the neural transcriptome in a cytoplasmic-predominant Pten expression murine model of autism-like Behavior |
| Q36756753 | Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteins |
| Q47334204 | Alternative start and termination sites of transcription drive most transcript isoform differences across human tissues |
| Q92999838 | An Approach to Identify Individual Functional Single Nucleotide Polymorphisms and Isoform MicroRNAs |
| Q99614844 | An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants |
| Q45943025 | Analysis and Prediction of Exon Skipping Events from RNA-Seq with Sequence Information Using Rotation Forest. |
| Q39679934 | Analysis of differential splicing suggests different modes of short-term splicing regulation |
| Q63979755 | Applications of machine learning in drug discovery and development. |
| Q61454156 | Artificial Intelligence in Pathology |
| Q78176987 | Artificial intelligence for precision medicine in neurodevelopmental disorders. |
| Q91845057 | Assessing predictions of the impact of variants on splicing in CAGI5 |
| Q92395249 | Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge |
| Q37241583 | Asthma Genetics in the Post-GWAS Era. |
| Q59050118 | Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing |
| Q36927242 | Automated Quantitative Nuclear Cardiology Methods |
| Q62652937 | Automated classification of Alzheimer's disease and mild cognitive impairment using a single MRI and deep neural networks |
| Q38706440 | BRIE: transcriptome-wide splicing quantification in single cells |
| Q59409764 | Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides |
| Q42679659 | Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia |
| Q89239660 | Biological classification with RNA-seq data: Can alternatively spliced transcript expression enhance machine learning classifiers? |
| Q39026618 | Brain transcriptome atlases: a computational perspective |
| Q58106112 | CADD: predicting the deleteriousness of variants throughout the human genome |
| Q91876563 | CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice |
| Q63649277 | CAGI experiments: modeling sequence variant impact on gene splicing using predictions from computational tools |
| Q55492676 | COSSMO: predicting competitive alternative splice site selection using deep learning. |
| Q38395966 | Cancer whole-genome sequencing: present and future. |
| Q37706941 | Characterization of RNA editome in primary and metastatic lung adenocarcinomas. |
| Q62172889 | Characterization of cis-acting elements that control oscillating alternative splicing |
| Q98735793 | Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine |
| Q33437471 | Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia. |
| Q28601828 | Coevolution Theory of the Genetic Code at Age Forty: Pathway to Translation and Synthetic Life |
| Q64237044 | Combined single-cell profiling of expression and DNA methylation reveals splicing regulation and heterogeneity |
| Q38542088 | Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. |
| Q61804783 | Comparison of different functional prediction scores using a gene-based permutation model for identifying cancer driver genes |
| Q98772339 | Compound heterozygous variants in POR gene identified by whole-exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency |
| Q60046981 | Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data |
| Q58762849 | Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? |
| Q61804794 | Computational identification of deleterious synonymous variants in human genomes using a feature-based approach |
| Q38710186 | Computer vision for high content screening |
| Q47843240 | Conservation, evolution, and regulation of splicing during prefrontal cortex development in humans, chimpanzees and macaques. |
| Q30381225 | Continuous Distributed Representation of Biological Sequences for Deep Proteomics and Genomics |
| Q58566969 | Control of CNS functions by RNA-binding proteins in neurological diseases |
| Q28659782 | Convolutional LSTM Networks for Subcellular Localization of Proteins |
| Q90622002 | Convolutional neural network model to predict causal risk factors that share complex regulatory features |
| Q90725005 | D-GPM: A Deep Learning Method for Gene Promoter Methylation Inference |
| Q47311474 | DEEPre: sequence-based enzyme EC number prediction by deep learning |
| Q88656902 | De Novo Mutations and Rare Variants Occurring in NMDA Receptors |
| Q91212090 | De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms |
| Q57639118 | Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis |
| Q92115195 | Deep Learning Deepens the Analysis of Alternative Splicing |
| Q50420138 | Deep Learning and its Applications in Biomedicine. |
| Q35971395 | Deep Learning for Population Genetic Inference |
| Q36906830 | Deep Patient: An Unsupervised Representation to Predict the Future of Patients from the Electronic Health Records. |
| Q90585555 | Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease |
| Q92373248 | Deep Splicing Code: Classifying Alternative Splicing Events Using Deep Learning |
| Q39301532 | Deep intronic mutations and human disease |
| Q28018765 | Deep learning |
| Q26740441 | Deep learning for computational biology |
| Q38798101 | Deep learning for healthcare: review, opportunities and challenges. |
| Q91315062 | Deep learning in biomedicine |
| Q47112458 | Deep learning of the splicing (epi)genetic code reveals a novel candidate mechanism linking histone modifications to ESC fate decision |
| Q93012649 | Deep learning: new computational modelling techniques for genomics |
| Q92688529 | Deep-learning augmented RNA-seq analysis of transcript splicing |
| Q38732767 | DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning. |
| Q30358676 | DeepCpG: accurate prediction of single-cell DNA methylation states using deep learning |
| Q58757805 | DeepDTA: deep drug-target binding affinity prediction |
| Q41702227 | DeepPep: Deep proteome inference from peptide profiles. |
| Q28077564 | Defective control of pre-messenger RNA splicing in human disease |
| Q47986803 | Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas. |
| Q90480353 | Defects of splicing in antithrombin deficiency |
| Q64056419 | Defining the genetic and evolutionary architecture of alternative splicing in response to infection |
| Q41445152 | Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing |
| Q38678256 | Degenerative neuromuscular diseases: crucial gene and cell machinery discoveries |
| Q64084225 | Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats |
| Q96577275 | Determination of RNA structural diversity and its role in HIV-1 RNA splicing |
| Q55171826 | Development of Neuroendocrine Prostate Cancers by the Ser/Arg Repetitive Matrix 4-Mediated RNA Splicing Network. |
| Q38982346 | Developmental regulation of RNA processing by Rbfox proteins |
| Q27304405 | De novo identification of replication-timing domains in the human genome by deep learning |
| Q60922264 | Diagnosing rare diseases after the exome |
| Q27469091 | Different RNA splicing mechanisms contribute to diverse infective outcome of classical swine fever viruses of differing virulence: insights from the deep sequencing data in swine umbilical vein endothelial cells |
| Q60930436 | Discerning novel splice junctions derived from RNA-seq alignment: a deep learning approach |
| Q101226308 | Discovery of driver non-coding splice-site-creating mutations in cancer |
| Q90598026 | Dissecting splicing decisions and cell-to-cell variability with designed sequence libraries |
| Q30279124 | Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping |
| Q91739964 | Distinct roles of GRIN2A and GRIN2B variants in neurological conditions |
| Q36157973 | Does conservation account for splicing patterns? |
| Q38605706 | Domain-based prediction of the human isoform interactome provides insights into the functional impact of alternative splicing |
| Q36702246 | Dopamine pathway gene variants may modulate cognitive performance in the DHS - Mind Study |
| Q41671504 | Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations. |
| Q89967443 | Dynamic Alternative Splicing During Mouse Preimplantation Embryo Development |
| Q93219264 | EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type |
| Q38766679 | ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism |
| Q47436273 | ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development |
| Q93087322 | Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease |
| Q42265693 | Evaluation of relative quantification of alternatively spliced transcripts using droplet digital PCR |
| Q47439347 | Exome Pool-Seq in neurodevelopmental disorders. |
| Q64096516 | Exome sequencing in 51 early onset non-familial CRC cases |
| Q90286793 | Exon size and sequence conservation improves identification of splice-altering nucleotides |
| Q39413366 | ExonImpact: Prioritizing Pathogenic Alternative Splicing Events |
| Q60915617 | Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations |
| Q47967143 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Q35892850 | Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools |
| Q47265970 | Exonic mutations and exon skipping: Lessons learned from DFNA5. |
| Q58792898 | Exonic splice regulation imposes strong selection at synonymous sites |
| Q59807135 | Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions |
| Q33923485 | Experimental and Computational Considerations in the Study of RNA-Binding Protein-RNA Interactions |
| Q47784889 | Exploiting differential RNA splicing patterns: a potential new group of therapeutic targets in cancer |
| Q89965957 | Exploring Deep Learning for Complex Trait Genomic Prediction in Polyploid Outcrossing Species |
| Q92852743 | Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing |
| Q48385629 | Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. |
| Q36296198 | Family studies to find rare high risk variants in migraine |
| Q36306108 | Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data |
| Q38281240 | Feature co-localization landscape of the human genome |
| Q36099629 | Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy |
| Q94064359 | From Genotype to Phenotype: A Primer on the Functional Follow-up of Genome-Wide Association Studies in Cardiovascular Disease |
| Q88201478 | Functional annotation of genomic variants in studies of late-onset Alzheimer's disease |
| Q90212560 | Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification |
| Q52588160 | Functional relevance of synonymous alleles reflected in allele rareness in the population. |
| Q46975743 | Further evidence for genotype-phenotype disparity in Griscelli syndrome. |
| Q91817788 | Future directions for high-throughput splicing assays in precision medicine |
| Q37469708 | GSDMB induces an asthma phenotype characterized by increased airway responsiveness and remodeling without lung inflammation |
| Q37356251 | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies |
| Q89238692 | Gene Regulatory Network Perturbation by Genetic and Epigenetic Variation |
| Q59350774 | Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection |
| Q40953669 | Genetic diagnosis of Mendelian disorders via RNA sequencing |
| Q50935778 | Genetic variation and alternative splicing. |
| Q37163230 | Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries. |
| Q37165678 | Genome-wide characteristics of de novo mutations in autism |
| Q55242430 | Genome-wide prediction of cis-regulatory regions using supervised deep learning methods. |
| Q92555547 | Genomic Analysis in the Age of Human Genome Sequencing |
| Q47142763 | Genomic medicine goes mainstream |
| Q38830228 | Global analysis of physical and functional RNA targets of hnRNP L reveals distinct sequence and epigenetic features of repressed and enhanced exons |
| Q97542415 | Graph neural representational learning of RNA secondary structures for predicting RNA-protein interactions |
| Q64065596 | Group Lasso Regularized Deep Learning for Cancer Prognosis from Multi-Omics and Clinical Features |
| Q91663873 | Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies |
| Q92020484 | Human PRPF40B regulates hundreds of alternative splicing targets and represses a hypoxia expression signature |
| Q35958578 | Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome |
| Q36138531 | Identification of Claudin 1 Transcript Variants in Human Invasive Breast Cancer. |
| Q41467585 | Identification of high-confidence RNA regulatory elements by combinatorial classification of RNA-protein binding sites |
| Q64903123 | Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series. |
| Q49684530 | Identification of potential genetic causal variants for rheumatoid arthritis by whole-exome sequencing. |
| Q92503625 | Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts |
| Q36515529 | Identification of significantly mutated regions across cancer types highlights a rich landscape of functional molecular alterations |
| Q46350456 | Identification of two novel chicken GPR133 variants and their expression in different tissues |
| Q98735725 | Identifying Circular RNA and Predicting Its Regulatory Interactions by Machine Learning |
| Q92638354 | Identifying genetic determinants of complex phenotypes from whole genome sequence data |
| Q52719851 | Inference of the Human Polyadenylation Code. |
| Q64055201 | Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes |
| Q35674217 | Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease |
| Q41199584 | Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome |
| Q47322132 | Integrative deep models for alternative splicing |
| Q40466706 | Intron retention is a widespread mechanism of tumor-suppressor inactivation. |
| Q55118340 | Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. |
| Q45946946 | Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants. |
| Q35983713 | Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. |
| Q47259043 | IsoPlot: a database for comparison of mRNA isoforms in fruit fly and mosquitoes |
| Q98195618 | Knowledge-primed neural networks enable biologically interpretable deep learning on single-cell sequencing data |
| Q98188547 | Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements |
| Q59336194 | Large-scale prediction of protein ubiquitination sites using a multimodal deep architecture |
| Q57471947 | Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels |
| Q50062969 | LeNup: Learning Nucleosome positioning from DNA sequences with improved convolutional neural networks. |
| Q37499331 | Lessons from non-canonical splicing |
| Q37217123 | Leveraging gene-environment interactions and endotypes for asthma gene discovery |
| Q38656663 | Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. |
| Q35693081 | Leveraging transcript quantification for fast computation of alternative splicing profiles |
| Q37122588 | Liver-Specific Deletion of SRSF2 Caused Acute Liver Failure and Early Death in Mice. |
| Q94571337 | Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency |
| Q63359369 | MMSplice: modular modeling improves the predictions of genetic variant effects on splicing |
| Q55428338 | Machine Learning and Radiogenomics: Lessons Learned and Future Directions. |
| Q41204513 | Machine Learning-Assisted Network Inference Approach to Identify a New Class of Genes that Coordinate the Functionality of Cancer Networks |
| Q45944293 | Machine learning annotation of human branchpoints. |
| Q44561171 | Machine learning model for sequence-driven DNA G-quadruplex formation |
| Q90738205 | Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq |
| Q37583703 | Mapping Whole-Transcriptome Splicing in Mouse Hematopoietic Stem Cells. |
| Q51568492 | Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene. |
| Q55365906 | Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes. |
| Q36322222 | Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy |
| Q36014281 | MiasDB: A Database of Molecular Interactions Associated with Alternative Splicing of Human Pre-mRNAs |
| Q90143193 | Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the young |
| Q45943768 | Modeling positional effects of regulatory sequences with spline transformations increases prediction accuracy of deep neural networks. |
| Q42368959 | Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. |
| Q39445724 | Molecular diagnosis of autosomal dominant polycystic kidney disease |
| Q99558341 | Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant |
| Q35974524 | Multivariate models from RNA-Seq SNVs yield candidate molecular targets for biomarker discovery: SNV-DA |
| Q27332438 | Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice |
| Q92727150 | Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study |
| Q38652003 | Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics? |
| Q41687462 | Neuregulin signaling pathway in smoking behavior |
| Q30239861 | Neuroblastoma, a Paradigm for Big Data Science in Pediatric Oncology. |
| Q39005973 | Neurogenesis: Regulation by Alternative Splicing and Related Posttranscriptional Processes |
| Q24658618 | Novel bioinformatic developments for exome sequencing |
| Q47199699 | Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. |
| Q89075971 | Opportunities and challenges in developing deep learning models using electronic health records data: a systematic review |
| Q36278942 | Opportunities and challenges of whole-genome and -exome sequencing. |
| Q52331906 | Opportunities and obstacles for deep learning in biology and medicine. |
| Q47252957 | Outlier detection for improved differential splicing quantification from RNA-Seq experiments with replicates. |
| Q27312184 | Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene |
| Q35996662 | PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations |
| Q41839929 | POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer |
| Q41591720 | PTBP1 and PTBP2 Repress Nonconserved Cryptic Exons |
| Q36011235 | Parallel computation of genome-scale RNA secondary structure to detect structural constraints on human genome. |
| Q92258187 | Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy |
| Q64230763 | Pathogenicity and selective constraint on variation near splice sites |
| Q38856002 | Personal Sensing: Understanding Mental Health Using Ubiquitous Sensors and Machine Learning. |
| Q93104320 | Pervasive Chromatin-RNA Binding Protein Interactions Enable RNA-Based Regulation of Transcription |
| Q47121697 | Polygenic determinants in extremes of high-density lipoprotein cholesterol |
| Q48288066 | Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. |
| Q88653167 | Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory |
| Q40885300 | PredcircRNA: computational classification of circular RNA from other long non-coding RNA using hybrid features. |
| Q45952551 | Predicting Subcellular Localization of Proteins by Bioinformatic Algorithms. |
| Q88492713 | Predicting gene structure changes resulting from genetic variants via exon definition features |
| Q64109406 | Predicting the change of exon splicing caused by genetic variant using support vector regression |
| Q92342229 | Preserving differential privacy in convolutional deep belief networks |
| Q40395928 | Promoter-like epigenetic signatures in exons displaying cell type-specific splicing |
| Q45946854 | Protein Sorting Prediction. |
| Q42369373 | RNA Sequence Context Effects Measured In Vitro Predict In Vivo Protein Binding and Regulation |
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