MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
about
Progress towards the integration of pharmacogenomics in practiceregSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.Saturation editing of genomic regions by multiplex homology-directed repairGenomic HEXploring allows landscaping of novel potential splicing regulatory elements.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.In silico prediction of splice-altering single nucleotide variants in the human genome.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Huntingtin Exists as Multiple Splice Forms in Human Brain.Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus.The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.GWASdb v2: an update database for human genetic variants identified by genome-wide association studies.Alternative splicing modulated by genetic variants demonstrates accelerated evolution regulated by highly conserved proteinsThe functional relevance of somatic synonymous mutations in melanoma and other cancers.Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPsLeveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Exome sequencing explained: a practical guide to its clinical application.Pathogenic variants that alter protein code often disrupt splicing.Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.RNA splicing. The human splicing code reveals new insights into the genetic determinants of diseaseThe RBPome: where the brains meet the brawn.'Oming in on RNA-protein interactions.Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.Somatic mutation driven codon transition bias in human cancer.PON-SC - program for identifying steric clashes caused by amino acid substitutions.Targeted Gene Sequencing of Gallbladder Carcinoma Identifies High-impact Somatic and Rare Germline Mutations.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Rules and tools to predict the splicing effects of exonic and intronic mutations.The Expanding Landscape of Alternative Splicing Variation in Human Populations.Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.m6ASNP: a tool for annotating genetic variants by m6A function.
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MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
MutPred Splice: machine learni ...... ariants that disrupt splicing.
@en
type
label
MutPred Splice: machine learni ...... ariants that disrupt splicing.
@en
prefLabel
MutPred Splice: machine learni ...... ariants that disrupt splicing.
@en
P2093
P2860
P356
P1433
P1476
MutPred Splice: machine learni ...... ariants that disrupt splicing.
@en
P2093
Edward V Ball
Jeremy R Sanford
Matthew Mort
Sean D Mooney
Timothy Sterne-Weiler
P2860
P2888
P356
10.1186/GB-2014-15-1-R19
P577
2014-01-13T00:00:00Z
P5875
P6179
1006429468