Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.

Human mutation - 1 Nov 2006

ElSharawy Abdou, Manaster Carl, Teuber Markus, Rosenstiel Philip, Kwiatkowski Ruta, Huse Klaus, Platzer Matthias, Becker Albert, Nürnberg Peter, Schreiber Stefan, Hampe Jochen

Abstract excerpt

Functional annotation of SNPs (as generated by HapMap (http://www.hapmap.org) for instance) is a major challenge. SNPs that lead to single amino acid substitutions, stop codons, or frameshift mutations can be readily interpreted, but these represent only a fraction of known SNPs. Many SNPs are located in sequences of splicing relevance-the canonical splice site consensus sequences, exonic and intronic splice...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Line, Tumor

Share to DNA, Complementary

Share to Electronic Data Processing

Share to RNA Splice Sites

Share to Software

Source

Identifiers

PMID: 16937379
DOI: 10.1002/humu.20377

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.PMID 16937379Read ↗

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.Semantic proximity Read ↗

F-SNP: computationally predicted functional SNPs for disease association studies.Semantic proximity Read ↗

Genome-wide identification of intrasplicing events in the human transcriptome and hints to their regulatory potentialSemantic proximity Read ↗

Genome-wide survey of allele-specific splicing in humans.Semantic proximity Read ↗

Genomic features defining exonic variants that modulate splicing.Semantic proximity Read ↗

Functional implications of splicing polymorphisms in the human genome.Semantic proximity Read ↗

Target SNP selection in complex disease association studies.Semantic proximity Read ↗

Seq4SNPs: new software for retrieval of multiple, accurately annotated DNA sequences, ready formatted for SNP assay design.Semantic proximity Read ↗

SNP-SIG Meeting 2011: identification and annotation of SNPs in the context of structure, function, and disease.Semantic proximity Read ↗

SNPLogic: an interactive single nucleotide polymorphism selection, annotation, and prioritization system.Semantic proximity Read ↗

SNP@Promoter: a database of human SNPs (single nucleotide polymorphisms) within the putative promoter regions.Semantic proximity Read ↗

Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.