Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Translating RNA sequencing into clinical diagnostics: opportunities and challenges

(2016) Sara A. Byron et al.   NATURE REVIEWS GENETICS

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array

(2015) Kirsi Kiiski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

De novo assembly of bacterial transcriptomes from RNA-seq data

(2015) Brian Tjaden   GENOME BIOLOGY

Role of Titin Missense Variants in Dilated Cardiomyopathy

(2015) R. L. Begay et al.   Journal of the American Heart Association

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

(2013) Russell J. Butterfield et al.   HUMAN MUTATION

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

(2013) Kai Wang et al.   Genome Medicine

RNA-SeQC: RNA-seq metrics for quality control and process optimization

(2012) David S. DeLuca et al.   BIOINFORMATICS

Clinical Approach to the Diagnostic Evaluation of Hereditary and Acquired Neuromuscular Diseases

(2012) Craig M. McDonald   Physical Medicine and Rehabilitation Clinics of North America

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing and disease

(2008) Jamal Tazi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Automatic detection of exonic splicing enhancers (ESEs) using SVMs

(2008) Britta Mersch et al.   BMC BIOINFORMATICS

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS