Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

(2021) Andre E. Minoche et al.   Genome Medicine

Clinically Responsive Genomic Analysis Pipelines: Elements to improve detection rate and efficiency

(2021) Samantha Leigh Sundercombe et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Impacts of genomics on the health and social costs of intellectual disability

(2020) Brett Doble et al.   JOURNAL OF MEDICAL GENETICS

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly

(2020) Mark Pinese et al.   Nature Communications

Genome sequencing in persistently unsolved white matter disorders

(2020) Guy Helman et al.   Annals of Clinical and Translational Neurology

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

(2020) Christian R. Marshall et al.   Genome Medicine

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Seave: a comprehensive web platform for storing and interrogating human genomic variation

(2018) Velimir Gayevskiy et al.   BIOINFORMATICS

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

(2018) Ahmed Alfares et al.   GENETICS IN MEDICINE

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

(2018) Katharina Schwarze et al.   GENETICS IN MEDICINE

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

(2018) Josh E. Petrikin et al.   npj Genomic Medicine

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

VarCards: an integrated genetic and clinical database for coding variants in the human genome

(2017) Jinchen Li et al.   NUCLEIC ACIDS RESEARCH

Genetic diagnosis of Mendelian disorders via RNA sequencing

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

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

(2016) Dimitri J Stavropoulos et al.   npj Genomic Medicine

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols