Comprehensive characterisation of intronic mis-splicing mutations in human cancers

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Understanding aberrant RNA splicing to facilitate cancer diagnosis and therapy

(2019) Xuesen Dong et al.   ONCOGENE

Interferon regulatory factor 1 inactivation in human cancer

(2018) Khaldoon Alsamman et al.   BIOSCIENCE REPORTS

A comprehensive characterization ofcis-acting splicing-associated variants in human cancer

(2018) Yuichi Shiraishi et al.   GENOME RESEARCH

Systematic Analysis of Splice-Site-Creating Mutations in Cancer

(2018) Reyka G. Jayasinghe et al.   Cell Reports

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

(2018) André Kahles et al.   CANCER CELL

Large-scale analysis of branchpoint usage across species and cell lines

(2017) Allison J. Taggart et al.   GENOME RESEARCH

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Pathogenic variants that alter protein code often disrupt splicing

(2017) Rachel Soemedi et al.   NATURE GENETICS

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

(2017) Carlo Rinaldi et al.   Nature Reviews Neurology

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations

(2016) Sven Diederichs et al.   EMBO Molecular Medicine

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Role of non-coding sequence variants in cancer

(2016) Ekta Khurana et al.   NATURE REVIEWS GENETICS

Lessons from non-canonical splicing

(2016) Christopher R. Sibley et al.   NATURE REVIEWS GENETICS

Splice-switching antisense oligonucleotides as therapeutic drugs

(2016) Mallory A. Havens et al.   NUCLEIC ACIDS RESEARCH

Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis

(2016) Alexandra M. Pinzaru et al.   Cell Reports

Genetic Landscapes of Relapsed and Refractory Diffuse Large B-Cell Lymphomas

(2015) R. D. Morin et al.   CLINICAL CANCER RESEARCH

Genome-wide discovery of human splicing branchpoints

(2015) Tim R. Mercer et al.   GENOME RESEARCH

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Identification and characterization of essential genes in the human genome

(2015) T. Wang et al.   SCIENCE

Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients

(2014) N. F. C. C. de Miranda et al.   BLOOD

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma

(2014) Niccolo Bolli et al.   Nature Communications

Cumulative Haploinsufficiency and Triplosensitivity Drive Aneuploidy Patterns and Shape the Cancer Genome

(2013) Teresa Davoli et al.   CELL

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Alternative splicing: a pivotal step between eukaryotic transcription and translation

(2013) Alberto R. Kornblihtt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Hallmarks of alternative splicing in cancer

(2013) S Oltean et al.   ONCOGENE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

RSeQC: quality control of RNA-seq experiments

(2012) Liguo Wang et al.   BIOINFORMATICS

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

MGA, a suppressor ofMYC, is recurrently inactivated in high risk chronic lymphocytic leukemia

(2012) Lorenzo De Paoli et al.   LEUKEMIA & LYMPHOMA

Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules

(2012) Yang Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Position-dependent splicing activation and repression by SR and hnRNP proteins rely on common mechanisms

(2012) S. Erkelenz et al.   RNA

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

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

Quantitative evaluation of all hexamers as exonic splicing elements

(2011) Shengdong Ke et al.   GENOME RESEARCH

Analysis of the coding genome of diffuse large B-cell lymphoma

(2011) Laura Pasqualucci et al.   NATURE GENETICS

Annotating non-coding regions of the genome

(2010) Roger P. Alexander et al.   NATURE REVIEWS GENETICS

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY