Best practices for the interpretation and reporting of clinical whole genome sequencing
出版年份 2022 全文链接
标题
Best practices for the interpretation and reporting of clinical whole genome sequencing
作者
关键词
-
出版物
npj Genomic Medicine
Volume 7, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2022-04-08
DOI
10.1038/s41525-022-00295-z
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。- Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
- (2022) Kristina Ibañez et al. LANCET NEUROLOGY
- Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
- (2021) Hope A. Tanudisastro et al. npj Genomic Medicine
- Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
- (2021) Xuefang Zhao et al. AMERICAN JOURNAL OF HUMAN GENETICS
- One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
- (2021) Stephen E. Lincoln et al. GENETICS IN MEDICINE
- 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
- Reducing Sanger confirmation testing through false positive prediction algorithms
- (2021) James M. Holt et al. GENETICS IN MEDICINE
- Interpretation of mitochondrial tRNA variants
- (2020) Lee-Jun C. Wong et al. GENETICS IN MEDICINE
- Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
- (2020) Ana Latorre-Pellicer et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange
- (2020) Danielle R. Azzariti et al. Annual Review of Genomics and Human Genetics
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
- (2020) Nicola Whiffin et al. Nature Communications
- The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
- (2020) Christian R. Marshall et al. Genome Medicine
- An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
- (2020) Valentina Cipriani et al. Genes
- Clinical and laboratory interpretation of mitochondrial mRNA variants
- (2020) Lee‐Jun C. Wong et al. HUMAN MUTATION
- Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
- (2020) Aida M. Bertoli-Avella et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
- (2020) Ramakrishnan Rajagopalan et al. GENETICS IN MEDICINE
- Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
- (2020) Elizabeth M. McCormick et al. HUMAN MUTATION
- Inherited causes of clonal haematopoiesis in 97,691 whole genomes
- (2020) Alexander G. Bick et al. NATURE
- Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
- (2020) Christian R. Marshall et al. npj Genomic Medicine
- Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
- (2020) Guido de Wert et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing
- (2019) Stephen E. Lincoln et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
- (2019) Alicia Scocchia et al. npj Genomic Medicine
- ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
- (2019) Egor Dolzhenko et al. BIOINFORMATICS
- Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
- (2019) Joshua L. Deignan et al. GENETICS IN MEDICINE
- Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
- (2019) Hiroyuki Mishima et al. JOURNAL OF HUMAN GENETICS
- Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
- (2019) David Bick et al. JOURNAL OF MEDICAL GENETICS
- 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
- Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project
- (2019) Kalotina Machini et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data
- (2019) Whitney Whitford et al. JOURNAL OF BIOMEDICAL INFORMATICS
- NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele
- (2019) Hannah Maude et al. Frontiers in Cell and Developmental Biology
- 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
- PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
- (2019) Antonio Rueda Martin et al. NATURE GENETICS
- Artificial intelligence in clinical and genomic diagnostics
- (2019) Raquel Dias et al. Genome Medicine
- Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes
- (2018) Jung Hoon Son et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
- (2018) Gregory Costain et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
- (2018) Fanny Thuriot et al. GENETICS IN MEDICINE
- Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
- (2018) Lisa J Ewans et al. GENETICS IN MEDICINE
- Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
- (2018) Caroline F Wright et al. GENETICS IN MEDICINE
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
- (2018) Michelle M. Clark et al. npj Genomic Medicine
- A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort
- (2018) Marci L.B. Schwartz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
- (2018) Betsy E. P. Ostrander et al. npj Genomic Medicine
- Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
- (2018) Andrew M. Gross et al. GENETICS IN MEDICINE
- Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)
- (2018) Karen L. David et al. GENETICS IN MEDICINE
- Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
- (2018) Elizabeth M. Webber et al. HUMAN MUTATION
- Updated recommendation for the benign stand-alone ACMG/AMP criterion
- (2018) Rajarshi Ghosh et al. HUMAN MUTATION
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
- (2018) Kimberly Splinter et al. NEW ENGLAND JOURNAL OF MEDICINE
- HmtVar: a new resource for human mitochondrial variations and pathogenicity data
- (2018) Roberto Preste et al. NUCLEIC ACIDS RESEARCH
- Human Disease Ontology 2018 update: classification, content and workflow expansion
- (2018) Lynn M Schriml et al. NUCLEIC ACIDS RESEARCH
- A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
- (2017) Zornitza Stark et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- (2017) Anath C Lionel et al. GENETICS IN MEDICINE
- Detection of long repeat expansions from PCR-free whole-genome sequence data
- (2017) Egor Dolzhenko et al. GENOME RESEARCH
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
- (2017) Jennifer E. Posey et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
- (2016) Sarah S. Kalia et al. GENETICS IN MEDICINE
- A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
- (2016) Julianne M. O’Daniel et al. GENETICS IN MEDICINE
- Clinical sequencing: is WGS the better WES?
- (2016) Janine Meienberg et al. HUMAN GENETICS
- HGVS Recommendations for the Description of Sequence Variants: 2016 Update
- (2016) Johan T. den Dunnen et al. HUMAN MUTATION
- Sambamba: fast processing of NGS alignment formats
- (2015) Artem Tarasov 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
- Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions
- (2015) Stefan H. Lelieveld et al. HUMAN MUTATION
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
- (2015) Linnea M. Baudhuin et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
- (2015) Marni J. Falk et al. MOLECULAR GENETICS AND METABOLISM
- Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
- (2015) Aziz Belkadi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
- (2011) Christel Vaché et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search