An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Published 2022 View Full Article
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Title
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Authors
Keywords
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Journal
Nature Communications
Volume 13, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2022-07-26
DOI
10.1038/s41467-022-31446-6
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Note: Only part of the references are listed.- Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing
- (2021) Jill L. Maron et al. JAMA Pediatrics
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
- (2021) Catherine Rehder et al. GENETICS IN MEDICINE
- Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
- (2021) David Dimmock et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
- (2021) Mallory J. Owen et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature
- (2021) Benjamin M. Helm et al. Genes
- Application of full-genome analysis to diagnose rare monogenic disorders
- (2021) Joseph T. Shieh et al. npj Genomic Medicine
- Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
- (2021) Francisco M. De La Vega et al. Genome Medicine
- Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis
- (2020) Sara Grineski et al. JOURNAL OF PEDIATRICS
- Understanding unwarranted variation in clinical practice: a focus on network effects, reflective medicine and learning health systems
- (2020) Femke Atsma et al. INTERNATIONAL JOURNAL FOR QUALITY IN HEALTH CARE
- A primer to gene therapy: Progress, prospects, and problems
- (2020) Hidde A. Zittersteijn et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Whole-genome sequencing of patients with rare diseases in a national health system
- (2020) Ernest Turro et al. NATURE
- A robust benchmark for detection of germline large deletions and insertions
- (2020) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
- (2020) Kiely N. James et al. npj Genomic Medicine
- Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours
- (2020) Daniel Bamborschke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping
- (2020) C. Trier et al. npj Genomic Medicine
- An online compendium of treatable genetic disorders
- (2020) David Bick et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- RefSeq: expanding the Prokaryotic Genome Annotation Pipeline reach with protein family model curation
- (2020) Wenjun Li et al. NUCLEIC ACIDS RESEARCH
- The Human Phenotype Ontology in 2021
- (2020) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening
- (2019) Laura V. Milko et al. JOURNAL OF PEDIATRICS
- Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
- (2019) Courtney E. French et al. INTENSIVE CARE MEDICINE
- The burden of rare diseases
- (2019) Carlos R. Ferreira AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
- (2019) David Bick et al. JOURNAL OF MEDICAL GENETICS
- An open resource for accurately benchmarking small variant and reference calls
- (2019) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
- (2019) Michelle M. Clark et al. Science Translational Medicine
- Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU
- (2019) Erica F. Sanford et al. Pediatric Critical Care Medicine
- A model for geographic and sociodemographic access to care disparities for adults with congenital heart disease
- (2019) Katherine B. Salciccioli et al. Congenital Heart Disease
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
- (2019) Stephen F. Kingsmore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
- (2019) Erin Rooney Riggs et al. GENETICS IN MEDICINE
- 10-Year Update on Study Results Submitted to ClinicalTrials.gov
- (2019) Deborah A. Zarin et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinVar: improvements to accessing data
- (2019) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Database resources of the National Center for Biotechnology Information
- (2019) Eric W Sayers et al. NUCLEIC ACIDS RESEARCH
- FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation
- (2019) Laura V. Milko et al. npj Genomic Medicine
- Expanding the phenome and variome of skeletal dysplasia
- (2018) Sateesh Maddirevula et al. GENETICS IN MEDICINE
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
- (2018) Lauge Farnaes 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
- Bead-linked transposomes enable a normalization-free workflow for NGS library preparation
- (2018) Stephen Bruinsma et al. BMC GENOMICS
- High-performance medicine: the convergence of human and artificial intelligence
- (2018) Eric J. Topol NATURE MEDICINE
- OMIM.org: leveraging knowledge across phenotype–gene relationships
- (2018) Joanna S Amberger et al. NUCLEIC ACIDS RESEARCH
- A curated gene list for reporting results of newborn genomic sequencing
- (2017) Ozge Ceyhan-Birsoy et al. GENETICS IN MEDICINE
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- (2017) Marilyn M. Li et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions
- (2017) Hengameh Zahed et al. JOURNAL OF PEDIATRICS
- DrugBank 5.0: a major update to the DrugBank database for 2018
- (2017) David S Wishart et al. NUCLEIC ACIDS RESEARCH
- Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
- (2017) Sonia Pavan et al. PLoS One
- Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
- (2016) Mohamed Abouelhoda et al. GENETICS IN MEDICINE
- The FAIR Guiding Principles for scientific data management and stewardship
- (2016) Mark D. Wilkinson et al. Scientific Data
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen 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
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Rapid whole genome sequencing and precision neonatology
- (2015) Joshua E. Petrikin et al. SEMINARS IN PERINATOLOGY
- Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders
- (2015) Laurie D. Smith et al. Cold Spring Harbor Perspectives in Medicine
- A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
- (2015) Neil A. Miller et al. Genome 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
- Off-Label Use of Drugs in Children
- (2014) et al. PEDIATRICS
- Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families
- (2012) M Reiff et al. CLINICAL GENETICS
- Scientific workflow systems: Pipeline Pilot and KNIME
- (2012) Wendy A. Warr JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN
- Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
- (2012) C. J. Saunders et al. Science Translational Medicine
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Genome-Based Health Literacy: A New Challenge for Public Health Genomics
- (2011) E.V. Syurina et al. Public Health Genomics
- A descriptive analysis of child-relevant systematic reviews in the Cochrane Database of Systematic Reviews
- (2010) Simon Bow et al. BMC Pediatrics
- Genetic assessment of breast cancer risk in primary care practice
- (2009) Wylie Burke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Delivery of Genomic Medicine for Common Chronic Adult Diseases
- (2008) Maren T. Scheuner et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support
- (2008) Paul A. Harris et al. JOURNAL OF BIOMEDICAL INFORMATICS
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