Related references
Note: Only part of the references are listed.Clinical application of whole-exome sequencing across clinical indications
Kyle Retterer et al.
GENETICS IN MEDICINE (2016)
Abundant contribution of short tandem repeats to gene expression variation in humans
Melissa Gymrek et al.
NATURE GENETICS (2016)
Systematic discovery of complex insertions and deletions in human cancers
Kai Ye et al.
NATURE MEDICINE (2016)
Lumacaftor alone and combined with ivacaftor: preclinical and clinical trial experience of F508del CFTR correction
John J. Brewington et al.
EXPERT REVIEW OF RESPIRATORY MEDICINE (2016)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Laura M. Amendola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Integration of string and de Bruijn graphs for genome assembly
Yao-Ting Huang et al.
BIOINFORMATICS (2016)
Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies
Kevin E. Fisher et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2016)
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Grace X. Y. Zheng et al.
NATURE BIOTECHNOLOGY (2016)
Computational genomics tools for dissecting tumour-immune cell interactions
Hubert Hackl et al.
NATURE REVIEWS GENETICS (2016)
Coming of age: ten years of next-generation sequencing technologies
Sara Goodwin et al.
NATURE REVIEWS GENETICS (2016)
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation
Julian R. Homburger et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Reclassification of genetic-based risk predictions as GWAS data accumulate
Joel Krier et al.
GENOME MEDICINE (2016)
Medical implications of technical accuracy in genome sequencing
Rachel L. Goldfeder et al.
GENOME MEDICINE (2016)
Taming the genome: towards better genetic test interpretation
Colleen Caleshu et al.
GENOME MEDICINE (2016)
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
James R. Priest et al.
PLOS GENETICS (2016)
Next-Generation Sequencing in Oncology in the Era of Precision Medicine
Gideon M. Blumenthal et al.
JAMA ONCOLOGY (2016)
The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States
Katarzyna Bryc et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
DNA Triplet Repeat Expansion and Mismatch Repair
Ravi R. Iyer et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
Preemptive Clinical Pharmacogenetics Implementation: Current Programs in Five US Medical Centers
Henry M. Dunnenberger et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 55 (2015)
QVZ: lossy compression of quality values
Greg Malysa et al.
BIOINFORMATICS (2015)
Immune Checkpoint Targeting in Cancer Therapy: Toward Combination Strategies with Curative Potential
Padmanee Sharma et al.
CELL (2015)
Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome
Sara Goodwin et al.
GENOME RESEARCH (2015)
The Undiagnosed Diseases Network of the National Institutes of Health A National Extension
William A. Gahl et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
The Precision Medicine Initiative A New National Effort
Euan A. Ashley
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
Pooled Analysis of Long-Term Survival Data From Phase II and Phase III Trials of Ipilimumab in Unresectable or Metastatic Melanoma
Dirk Schadendorf et al.
JOURNAL OF CLINICAL ONCOLOGY (2015)
Comprehensive genomic characterization of head and neck squamous cell carcinomas
Michael S. Lawrence et al.
NATURE (2015)
Quality score compression improves genotyping accuracy
Y. William Yu et al.
NATURE BIOTECHNOLOGY (2015)
Improved genome inference in the MHC using a population reference graph
Alexander Dilthey et al.
NATURE GENETICS (2015)
Assembly and diploid architecture of an individual human genome via single-molecule technologies
Matthew Pendleton et al.
NATURE METHODS (2015)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Genetic variation and the de novo assembly of human genomes
Mark J. P. Chaisson et al.
NATURE REVIEWS GENETICS (2015)
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
Abdul Rehman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
A New Initiative on Precision Medicine
Francis S. Collins et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction
Sara Rufini et al.
PHARMACOGENOMICS (2015)
Unmet needs: Research helps regulators do their jobs
Russ B. Altman et al.
SCIENCE TRANSLATIONAL MEDICINE (2015)
ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly
Rendong Yang et al.
GENOME MEDICINE (2015)
Targeted therapies to improve CFTR function in cystic fibrosis
Malcolm Brodlie et al.
GENOME MEDICINE (2015)
Achieving high-sensitivity for clinical applications using augmented exome sequencing
Anil Patwardhan et al.
GENOME MEDICINE (2015)
Big Data: Astronomical or Genomical?
Zachary D. Stephens et al.
PLOS BIOLOGY (2015)
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Frederick E. Dewey et al.
PLOS GENETICS (2015)
Extending reference assembly models
Deanna M. Church et al.
GENOME BIOLOGY (2015)
A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature
Reece K. Hart et al.
BIOINFORMATICS (2015)
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
Kyle Retterer et al.
GENETICS IN MEDICINE (2015)
Resolving the complexity of the human genome using single-molecule sequencing
Mark J. P. Chaisson et al.
NATURE (2015)
High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4(+) T cells in human melanoma
Carsten Linnemann et al.
NATURE MEDICINE (2015)
Leading the way to genomic medicine
Teri A. Manolio et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)
Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process
Kelly E. Caudle et al.
CURRENT DRUG METABOLISM (2014)
The impact of chromosomal microarray on clinical management: a retrospective analysis
Lindsay B. Henderson et al.
GENETICS IN MEDICINE (2014)
Reconstructing complex regions of genomes using long-read sequencing technology
John Huddleston et al.
GENOME RESEARCH (2014)
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing
James R. Priest et al.
HEART RHYTHM (2014)
Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes
Iakes Ezkurdia et al.
HUMAN MOLECULAR GENETICS (2014)
Clinical Interpretation and Implications of Whole-Genome Sequencing
Frederick E. Dewey et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens
Matthew M. Gubin et al.
NATURE (2014)
Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
Justin M. Zook et al.
NATURE BIOTECHNOLOGY (2014)
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
Andy Rimmer et al.
NATURE GENETICS (2014)
Defining the role of common variation in the genomic and biological architecture of adult human height
Andrew R. Wood et al.
NATURE GENETICS (2014)
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
Aaron M. Newman et al.
NATURE MEDICINE (2014)
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
Giuseppe Narzisi et al.
NATURE METHODS (2014)
Defining a personal, allele-specific, and single-molecule long-read transcriptome
Hagen Tilgner et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
Jason L. Vassy et al.
TRIALS (2014)
SW#-GPU-enabled exact alignments on genome scale
Matija Korpar et al.
BIOINFORMATICS (2013)
Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors Guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology
Neal I. Lindeman et al.
JOURNAL OF THORACIC ONCOLOGY (2013)
A genomic view of mosaicism and human disease
Leslie G. Biesecker et al.
NATURE REVIEWS GENETICS (2013)
Expressed Pseudogenes in the Transcriptional Landscape of Human Cancers
Shanker Kalyana-Sundaram et al.
CELL (2012)
Clopidogrel: A Case for Indication-Specific Pharmacogenetics
J. A. Johnson et al.
CLINICAL PHARMACOLOGY & THERAPEUTICS (2012)
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl et al.
GENETICS IN MEDICINE (2012)
Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial
Jason D. Roberts et al.
LANCET (2012)
What makes UK Biobank special?
Rory Collins
LANCET (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Performance comparison of whole-genome sequencing platforms
Hugo Y. K. Lam et al.
NATURE BIOTECHNOLOGY (2012)
De novo assembly and genotyping of variants using colored de Bruijn graphs
Zamin Iqbal et al.
NATURE GENETICS (2012)
Fast gapped-read alignment with Bowtie 2
Ben Langmead et al.
NATURE METHODS (2012)
Survival in BRAF V600-Mutant Advanced Melanoma Treated with Vemurafenib
Jeffrey A. Sosman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
Kim D. Pruitt et al.
NUCLEIC ACIDS RESEARCH (2012)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Novel Method to Estimate the Phenotypic Variation Explained by Genome-Wide Association Studies Reveals Large Fraction of the Missing Heritability
Zoltan Kutalik et al.
GENETIC EPIDEMIOLOGY (2011)
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Elizabeth A. Worthey et al.
GENETICS IN MEDICINE (2011)
Dindel: Accurate indel calls from short-read data
Cornelis A. Albers et al.
GENOME RESEARCH (2011)
Efficient storage of high throughput DNA sequencing data using reference-based compression
Markus Hsi-Yang Fritz et al.
GENOME RESEARCH (2011)
Charting a course for genomic medicine from base pairs to bedside
Eric D. Green et al.
NATURE (2011)
The importance of phase information for human genomics
Ryan Tewhey et al.
NATURE REVIEWS GENETICS (2011)
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Bonnie W. Ramsey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Whole-Genome Sequencing for Optimized Patient Management
Matthew N. Bainbridge et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Frederick E. Dewey et al.
PLOS GENETICS (2011)
Reduced-Function CYP2C19 Genotype and Risk of Adverse Clinical Outcomes Among Patients Treated With Clopidogrel Predominantly for PCI A Meta-analysis
Jessica L. Mega et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2010)
Warfarin Genotyping Reduces Hospitalization Rates Results From the MM-WES (Medco-Mayo Warfarin Effectiveness Study)
Robert S. Epstein et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2010)
Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis
Jessica L. Mega et al.
LANCET (2010)
Clinical assessment incorporating a personal genome
Euan A. Ashley et al.
LANCET (2010)
A coding-independent function of gene and pseudogene mRNAs regulates tumour biology
Laura Poliseno et al.
NATURE (2010)
Effects of CYP2C19 Genotype on Outcomes of Clopidogrel Treatment
Guillaume Pare et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing
Jeffrey A. Rosenfeld et al.
NUCLEIC ACIDS RESEARCH (2010)
Cost-Effectiveness of Using Pharmacogenetic Information in Warfarin Dosing for Patients With Nonvalvular Atrial Fibrillation
Mark H. Eckman et al.
ANNALS OF INTERNAL MEDICINE (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
Chao Xie et al.
BMC BIOINFORMATICS (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
Prasugrel versus clopidogrel in patients with acute coronary syndromes
Stephen D. Wiviott et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
PharmGKB: a logical home for knowledge relating genotype to drug response phenotype
Russ B. Altman
NATURE GENETICS (2007)
A haplotype map of the human genome
D Altshuler et al.
NATURE (2005)
Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir
S Mallal et al.
LANCET (2002)
Implications of the Human Genome Project for medical science
FS Collins et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
Share Paper
