(Q30391847)

21 June 2017

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title

Towards precision medicine (English)

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21 June 2017

Euan A Ashley

1

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21 June 2017

1 August 2016

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21 June 2017

Nature Reviews Genetics

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21 June 2017

17

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21 June 2017

9

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21 June 2017

507-522

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Implications of the Human Genome Project for medical science.

21 June 2017

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Targeted capture and massively parallel sequencing of 12 human exomes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Clinical assessment incorporating a personal genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Whole-genome sequencing for optimized patient management

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Clopidogrel: a case for indication-specific pharmacogenetics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Clinical interpretation and implications of whole-genome sequencing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Leading the way to genomic medicine.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Charting a course for genomic medicine from base pairs to bedside

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The genetic ancestry of African Americans, Latinos, and European Americans across the United States

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

A new initiative on precision medicine

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The precision medicine initiative: a new national effort

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Targeted therapies to improve CFTR function in cystic fibrosis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Lumacaftor alone and combined with ivacaftor: preclinical and clinical trial experience of F508del CFTR correction.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Next-Generation Sequencing in Oncology in the Era of Precision Medicine

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Immune checkpoint targeting in cancer therapy: toward combination strategies with curative potential

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

High-throughput epitope discovery reveals frequent recognition of neo-antigens by CD4+ T cells in human melanoma

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Pooled Analysis of Long-Term Survival Data From Phase II and Phase III Trials of Ipilimumab in Unresectable or Metastatic Melanoma

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Comprehensive genomic characterization of head and neck squamous cell carcinomas

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Computational genomics tools for dissecting tumour-immune cell interactions

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Estimation of the warfarin dose with clinical and pharmacogenetic data

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Cost-effectiveness of using pharmacogenetic information in warfarin dosing for patients with nonvalvular atrial fibrillation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Warfarin genotyping reduces hospitalization rates results from the MM-WES (Medco-Mayo Warfarin Effectiveness study).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Effects of CYP2C19 genotype on outcomes of clopidogrel treatment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Point-of-care genetic testing for personalisation of antiplatelet treatment (RAPID GENE): a prospective, randomised, proof-of-concept trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Prasugrel versus clopidogrel in patients with acute coronary syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

PharmGKB: a logical home for knowledge relating genotype to drug response phenotype

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Practical considerations in genomic decision support: The eMERGE experience

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The case for a US prospective cohort study of genes and environment

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

What makes UK Biobank special?

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

A haplotype map of the human genome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Finding the missing heritability of complex diseases

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The impact of chromosomal microarray on clinical management: a retrospective analysis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Guidelines for investigating causality of sequence variants in human disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A genomic view of mosaicism and human disease

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Extending reference assembly models

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

The repetitive DNA content of eukaryotic genomes.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Medical implications of technical accuracy in genome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Abundant contribution of short tandem repeats to gene expression variation in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A brief history of triplet repeat diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

DNA triplet repeat expansion and mismatch repair

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Medical genetics: a marker for Stevens-Johnson syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Association between presence of HLA-B*5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Improved genome inference in the MHC using a population reference graph

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

The importance of phase information for human genomics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Defining a personal, allele-specific, and single-molecule long-read transcriptome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Resolving the complexity of the human genome using single-molecule sequencing

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Coming of age: ten years of next-generation sequencing technologies

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRG.2016.86

Genetic variation and the de novo assembly of human genomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Integration of string and de Bruijn graphs for genome assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Returning to more finished genomes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Assembly and diploid architecture of an individual human genome via single-molecule technologies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Big Data: Astronomical or Genomical?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Efficient storage of high throughput DNA sequencing data using reference-based compression

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Base-calling of automated sequencer traces using phred. II. Error probabilities

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

QVZ: lossy compression of quality values

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Effect of lossy compression of quality scores on variant calling.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Quality score compression improves genotyping accuracy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

De novo assembly and genotyping of variants using colored de Bruijn graphs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A general method applicable to the search for similarities in the amino acid sequence of two proteins

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Identification of common molecular subsequences

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

SW#-GPU-enabled exact alignments on genome scale

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Fast gapped-read alignment with Bowtie 2

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Fast and accurate short read alignment with Burrows-Wheeler transform

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Suffix Arrays: A New Method for On-Line String Searches

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Expressed pseudogenes in the transcriptional landscape of human cancers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A coding-independent function of gene and pseudogene mRNAs regulates tumour biology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

The thrombophilias: well-defined risk factors with uncertain therapeutic implications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Performance comparison of whole-genome sequencing platforms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Reclassification of genetic-based risk predictions as GWAS data accumulate

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Dindel: accurate indel calls from short-read data

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Reconstructing complex regions of genomes using long-read sequencing technology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Genome sequencing identifies major causes of severe intellectual disability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Clinical application of whole-exome sequencing across clinical indications

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Achieving high-sensitivity for clinical applications using augmented exome sequencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Unmet needs: Research helps regulators do their jobs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Defining the role of common variation in the genomic and biological architecture of adult human height

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

ClinGen--the Clinical Genome Resource

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Taming the genome: towards better genetic test interpretation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2016.86

Systematic discovery of complex insertions and deletions in human cancers.

31 March 2020

1 reference

12 December 2020

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

1 reference

12 December 2020

Contiguous and accurate de novo assembly of metazoan genomes with modest long read coverage

1 reference

12 December 2020

The human genome and its upcoming dynamics

1 reference

12 December 2020

Pharmacogenomics and clopidogrel: irrational exuberance?

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG.2016.86

1 reference

PubMed ID

27528417

Dimensions Publication ID

21 June 2017

0 references

1 reference

PubMed ID

27528417