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。vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
Robert H. Dolin et al.
BMC BIOINFORMATICS (2021)
A wealth of discovery built on the Human Genome Project - by the numbers
Alexander J. Gates et al.
NATURE (2021)
Exome variant discrepancies due to reference-genome differences
He Li et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J. Ngo et al.
HUMAN MUTATION (2020)
The case for implementing sustainable routine, population-level genomic reanalysis
Christine Y. Lu et al.
GENETICS IN MEDICINE (2020)
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades
Jiale Xiang et al.
SCIENTIFIC REPORTS (2020)
Reinterpretation of Chromosomal Microarrays with Detailed Medical History
Midhat S. Farooqi et al.
JOURNAL OF PEDIATRICS (2020)
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
Jeroen van Rooij et al.
GENETICS IN MEDICINE (2020)
Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?
Ann Chen Wu et al.
JAMA PEDIATRICS (2020)
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
Kiely N. James et al.
NPJ GENOMIC MEDICINE (2020)
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Natalie B. Tan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Vandana Shashi et al.
GENETICS IN MEDICINE (2019)
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Zornitza Stark et al.
GENETICS IN MEDICINE (2019)
The impact of variant classification on the clinical management of hereditary cancer syndromes
Scott A. Turner et al.
GENETICS IN MEDICINE (2019)
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation
Jinliang Li et al.
GENE (2019)
The transformation of medical genetics by clinical genomics: hubris meets humility
Wayne W. Grody
GENETICS IN MEDICINE (2019)
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
Yvonne Bombard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Yu Sun et al.
BMC MEDICAL GENOMICS (2019)
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
Samuel F. Berkovic et al.
EPILEPSIA (2019)
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
Joshua L. Deignan et al.
GENETICS IN MEDICINE (2019)
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project
Kalotina Machini et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Ange-Line Bruel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
Joanne Trinh et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2019)
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists
Julia El Mecky et al.
BMC MEDICAL GENOMICS (2019)
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar
Steven M. Harrison et al.
GENOME MEDICINE (2019)
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Nadine Jalkh et al.
BMC MEDICAL GENOMICS (2019)
Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
Lina Basel Salmon et al.
GENETICS IN MEDICINE (2019)
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Karen L. David et al.
GENETICS IN MEDICINE (2019)
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
Samuel W. Baker et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2019)
The effects of genomic germline variant reclassification on clinical cancer care
Thomas P. Slavin et al.
Oncotarget (2019)
Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study
Jennifer M. Taber et al.
GENETICS IN MEDICINE (2018)
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Samuel F. Berkovic et al.
GENETICS IN MEDICINE (2018)
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Kristin McDonald Gibson et al.
GENETICS IN MEDICINE (2018)
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot et al.
GENETICS IN MEDICINE (2018)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Systematic reanalysis of genomic data improves quality of variant interpretation
S. M. Hiatt et al.
CLINICAL GENETICS (2018)
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Ahmed Alfares et al.
GENETICS IN MEDICINE (2018)
Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project
J. Scott Roberts et al.
GENETICS IN MEDICINE (2018)
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J. Ewans et al.
GENETICS IN MEDICINE (2018)
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Caroline F. Wright et al.
GENETICS IN MEDICINE (2018)
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits
Maryam Al-Nabhani et al.
CLINICAL GENETICS (2018)
Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis
Mahdi Sarmady et al.
JAMA PEDIATRICS (2018)
How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
Rachel Schwiter et al.
CURRENT GENETIC MEDICINE REPORTS (2018)
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities
Bing Xiao et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Aaron M. Wenger et al.
GENETICS IN MEDICINE (2017)
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy
Hanan E. Shamseldin et al.
GENETICS IN MEDICINE (2017)
The importance of dynamic re-analysis in diagnostic whole exome sequencing
Anna C. Need et al.
JOURNAL OF MEDICAL GENETICS (2017)
A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
Sandi Dheensa et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Zornitza Stark et al.
GENETICS IN MEDICINE (2017)
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K. Eldomery et al.
GENOME MEDICINE (2017)
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M. Bowling et al.
GENOME MEDICINE (2017)
Dynamic Consent: a potential solution to some of the challenges of modern biomedical research
Isabelle Budin-Ljosne et al.
BMC MEDICAL ETHICS (2017)
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)
Recommendations for the integration of genomics into clinical practice
Sarah Bowdin et al.
GENETICS IN MEDICINE (2016)
A federated ecosystem for sharing genomic, clinical data
SCIENCE (2016)
Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities
Christiane Reitz
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Anthony A. Philippakis et al.
HUMAN MUTATION (2015)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
Pharmacogenomics in the clinic
Mary V. Relling et al.
NATURE (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Ryan J. Taft et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions
Mitzi L. Murray et al.
GENETICS IN MEDICINE (2011)
Charting a course for genomic medicine from base pairs to bedside
Eric D. Green et al.
NATURE (2011)
Informed Consent in Genomics and Genetic Research
Amy L. McGuire et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11 (2010)
Safety and efficacy of gene transfer for Leber's congenital amaurosis
Albert M. Maguire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)