Variants Affecting Exon Skipping Contribute to Complex Traits

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

(2012) Elizabeth T Cirulli et al.   GENOME BIOLOGY

An Alternative Splicing Switch Regulates Embryonic Stem Cell Pluripotency and Reprogramming

(2011) Mathieu Gabut et al.   CELL

Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas

(2011) Clare V LeFave et al.   EMBO JOURNAL

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

An EMT–Driven Alternative Splicing Program Occurs in Human Breast Cancer and Modulates Cellular Phenotype

(2011) Irina M. Shapiro et al.   PLoS Genetics

The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study

(2011) Alexandra C. Nica et al.   PLoS Genetics

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

(2010) P. Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

The developmental transcriptome of Drosophila melanogaster

(2010) Brenton R. Graveley et al.   NATURE

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

Ensembl 2011

(2010) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: update 2011

(2010) P. A. Fujita et al.   NUCLEIC ACIDS RESEARCH

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

SCAN: SNP and copy number annotation

(2009) Eric R. Gamazon et al.   BIOINFORMATICS

Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript isoform variation

(2009) Kevin CH Ha et al.   BMC GENOMICS

Rational Design of Antisense Oligomers to Induce Dystrophin Exon Skipping

(2009) Chalermchai Mitrpant et al.   MOLECULAR THERAPY

Genome-wide association study identifies three loci associated with melanoma risk

(2009) D Timothy Bishop et al.   NATURE GENETICS

Alternative splicing: regulation without regulators

(2009) Brenton R Graveley   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cancer-associated regulation of alternative splicing

(2009) Julian P Venables et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of HMGCR Alternative Splicing in Statin Efficacy

(2009) Marisa Wong Medina et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Genetic Architecture of Transcript-Level Variation in Humans

(2008) Shiwei Duan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Functional Role for KLF6-SV1 in Lung Adenocarcinoma Prognosis and Chemotherapy Response

(2008) A. DiFeo et al.   CANCER RESEARCH

Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition

(2008) Yang Yu et al.   CELL

Identification of common genetic variants that account for transcript isoform variation between human populations

(2008) Wei Zhang et al.   HUMAN GENETICS

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Genome-wide analysis of transcript isoform variation in humans

(2008) Tony Kwan et al.   NATURE GENETICS

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

The UCSC Genome Browser Database: update 2009

(2008) R. M. Kuhn et al.   NUCLEIC ACIDS RESEARCH

Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits

(2008) Erin L Heinzen et al.   PLOS BIOLOGY

Effective Exon Skipping and Restoration of Dystrophin Expression by Peptide Nucleic Acid Antisense Oligonucleotides in mdx Mice

(2007) Haifang Yin et al.   MOLECULAR THERAPY