标题
Evolving health care through personal genomics
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume 18, Issue 4, Pages 259-267
出版商
Springer Nature
发表日期
2017-01-31
DOI
10.1038/nrg.2016.162
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Monitoring of Vital Signs with Flexible and Wearable Medical Devices
- (2016) Yasser Khan et al. ADVANCED MATERIALS
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
- (2016) Laura M. Amendola et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
- (2016) J. Thevenon et al. CLINICAL GENETICS
- Consumer sleep tracking devices: a review of mechanisms, validity and utility
- (2016) Bhanu Prakash Kolla et al. Expert Review of Medical Devices
- Global trends on fears and concerns of genetic discrimination: a systematic literature review
- (2016) Annet Wauters et al. JOURNAL OF HUMAN GENETICS
- Transforming the care of atrial fibrillation with mobile health
- (2016) Mintu P. Turakhia et al. JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY
- Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis
- (2016) Laila C. Schenkel et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel
- (2016) Francesca Boaretto et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic
- (2016) Konstantinos N. Lazaridis et al. MAYO CLINIC PROCEEDINGS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns
- (2016) S. E. Waisbren et al. PEDIATRICS
- Patients’ perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project
- (2016) Philip J Lupo et al. Personalized Medicine
- A federated ecosystem for sharing genomic, clinical data
- (2016) SCIENCE
- Genetic testing of 248 Chinese aortopathy patients using a panel assay
- (2016) Hang Yang et al. Scientific Reports
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
- (2015) Jeffrey R. Botkin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations
- (2015) M. Čizmárová et al. ANNALS OF HUMAN GENETICS
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
- (2015) S.L. Sawyer et al. CLINICAL GENETICS
- Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features
- (2015) Jessica X. Chong et al. GENETICS IN MEDICINE
- Newborn testing and screening by whole-genome sequencing
- (2015) Stephen F. Kingsmore GENETICS IN MEDICINE
- Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
- (2015) Ahmed A. Alfares et al. GENETICS IN MEDICINE
- VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data
- (2015) Trevor J. Pugh et al. GENETICS IN MEDICINE
- 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
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification
- (2015) Laura M. Amendola et al. GENOME RESEARCH
- Participant-Driven Matchmaking in the Genomic Era
- (2015) Katherine F. Lambertson et al. HUMAN MUTATION
- GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge
- (2015) Brianne E. Kirkpatrick et al. HUMAN MUTATION
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- Next generation sequencing in endocrine practice
- (2015) Gregory P. Forlenza et al. MOLECULAR GENETICS AND METABOLISM
- Building the foundation for genomics in precision medicine
- (2015) Samuel J. Aronson et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- A New Initiative on Precision Medicine
- (2015) Francis S. Collins et al. NEW ENGLAND JOURNAL OF MEDICINE
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss
- (2015) A. Eliot Shearer et al. OTOLARYNGOLOGY-HEAD AND NECK SURGERY
- Big Data and Public Health: Navigating Privacy Laws to Maximize Potential
- (2015) Jane Hyatt Thorpe et al. PUBLIC HEALTH REPORTS
- Explaining, not just predicting, drives interest in personal genomics
- (2015) Susanne F. Meisel et al. Genome Medicine
- Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances
- (2014) Kyriaki S. Alatzoglou et al. ENDOCRINE REVIEWS
- Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories
- (2014) Djie Tjwan Thung et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
- (2014) Trevor J. Pugh et al. GENETICS IN MEDICINE
- Parents are interested in newborn genomic testing during the early postpartum period
- (2014) Susan E. Waisbren et al. GENETICS IN MEDICINE
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Guidance for laboratories performing molecular pathology for cancer patients
- (2014) Ian A Cree et al. JOURNAL OF CLINICAL PATHOLOGY
- Noninvasive Prenatal Testing
- (2014) Jamie O. Lo et al. OBSTETRICAL & GYNECOLOGICAL SURVEY
- The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
- (2014) Jason L Vassy et al. Trials
- 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
- (2013) Neal I. Lindeman et al. Journal of Thoracic Oncology
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Late Outcomes for Surgical Repair of Supravalvar Aortic Stenosis
- (2012) Salil V. Deo et al. ANNALS OF THORACIC SURGERY
- Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
- (2012) Swaroop Aradhya et al. GENETICS IN MEDICINE
- Noninvasive Whole-Genome Sequencing of a Human Fetus
- (2012) J. O. Kitzman et al. Science Translational Medicine
- Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation
- (2011) Paul B. Chapman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis
- (2011) OBSTETRICS AND GYNECOLOGY
- IDH1 or IDH2 mutations predict longer survival and response to temozolomide in low-grade gliomas
- (2010) C. Houillier et al. NEUROLOGY
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