A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

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

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

(2014) Henrik Stranneheim et al.   BMC GENOMICS

Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing

(2014) James R. Priest et al.   HEART RHYTHM

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease

(2013) Emilie R. Muelly et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome variation and personalized cancer medicine

(2013) T. J. Hudson   JOURNAL OF INTERNAL MEDICINE

Genomic Medicine: A Decade of Successes, Challenges, and Opportunities

(2013) J. J. McCarthy et al.   Science Translational Medicine

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

One Community’s Effort to Control Genetic Disease

(2012) Kevin A. Strauss et al.   AMERICAN JOURNAL OF PUBLIC HEALTH

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

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

Ontological phenotype standards for neurogenetics

(2012) Sebastian Köhler et al.   HUMAN MUTATION

Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial

(2012) Ben Tran et al.   INTERNATIONAL JOURNAL OF CANCER

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

How Infants Die in the Neonatal Intensive Care Unit

(2011) Julie Weiner   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The UCSC Genome Browser database: extensions and updates 2011

(2011) T. R. Dreszer et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and SNP-tolerant detection of complex variants and splicing in short reads

(2010) T. D. Wu et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE