相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1
Mi-Ae Jang et al.
JOURNAL OF HUMAN GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
Omar Soukarieh et al.
PLOS GENETICS (2016)
Mechanisms and Regulation of Alternative Pre-mRNA Splicing
Yeon Lee et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences
Alexander B. Rosenberg et al.
CELL (2015)
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Rodrigo Santa Cruz Guindalini et al.
GASTROENTEROLOGY (2015)
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells (vol 29, pg 1092, 2015)
H. Dolatshad et al.
LEUKEMIA (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3′ Splice Site Selection in SF3B1-mutated Cancers
Christopher DeBoever et al.
PLOS COMPUTATIONAL BIOLOGY (2015)
U2AF1 mutations alter splice site recognition in hematological malignancies
Janine O. Ilagan et al.
GENOME RESEARCH (2015)
COSMIC: exploring the world's knowledge of somatic mutations in human cancer
Simon A. Forbes et al.
NUCLEIC ACIDS RESEARCH (2015)
Gene Ontology Consortium: going forward
J. A. Blake et al.
NUCLEIC ACIDS RESEARCH (2015)
RNA-Binding Proteins: Splicing Factors and Disease
Alger M. Fredericks et al.
BIOMOLECULES (2015)
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Matthew Mort et al.
GENOME BIOLOGY (2014)
Predicting the functional consequences of non-synonymous DNA sequence variants - evaluation of bioinformatics tools and development of a consensus strategy
Kimon Frousios et al.
GENOMICS (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing
Kian Huat Lim et al.
BIOINFORMATICS (2012)
Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
Barbara Wappenschmidt et al.
PLOS ONE (2012)
Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition
Maayan Amit et al.
CELL REPORTS (2012)
ViennaRNA Package 2.0
Ronny Lorenz et al.
ALGORITHMS FOR MOLECULAR BIOLOGY (2011)
Quantitative evaluation of all hexamers as exonic splicing elements
Shengdong Ke et al.
GENOME RESEARCH (2011)
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Valerie Bonadona et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
Kian Huat Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Characterising and Predicting Haploinsufficiency in the Human Genome
Ni Huang et al.
PLOS GENETICS (2010)
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
A Subramanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Predictive identification of exonic splicing enhancers in human genes
WG Fairbrother et al.
SCIENCE (2002)
分享论文
