标题
Measuring coverage and accuracy of whole-exome sequencing in clinical context
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-04-12
DOI
10.1038/gim.2018.51
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。- Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines
- (2018) Somak Roy et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Comparison of 2 Commercially Available Next-Generation Sequencing Platforms in Oncology
- (2017) Nicole M. Kuderer et al. JAMA Oncology
- Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
- (2017) Sonia Pavan et al. PLoS One
- Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity
- (2017) Qingyu Wang et al. Scientific Reports
- Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
- (2016) Diana Mandelker et al. GENETICS IN MEDICINE
- 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
- Evaluating genomic DNA extraction methods from human whole blood using endpoint and real-time PCR assays
- (2016) Linda Koshy et al. MOLECULAR BIOLOGY REPORTS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The Impact of DNA Input Amount and DNA Source on the Performance of Whole-Exome Sequencing in Cancer Epidemiology
- (2015) Q. Zhu et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- New insights into the performance of human whole-exome capture platforms
- (2015) J. Meienberg et al. NUCLEIC ACIDS RESEARCH
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- 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
- Systematic comparison of variant calling pipelines using gold standard personal exome variants
- (2015) Sohyun Hwang et al. Scientific Reports
- Variant detection sensitivity and biases in whole genome and exome sequencing
- (2014) Alison M Meynert et al. BMC BIOINFORMATICS
- Effective filtering strategies to improve data quality from population-based whole exome sequencing studies
- (2014) Andrew R Carson et al. BMC BIOINFORMATICS
- Performance comparison of four exome capture systems for deep sequencing
- (2014) Chandra Sekhar Chilamakuri et al. BMC GENOMICS
- Analytical validation of whole exome and whole genome sequencing for clinical applications
- (2014) Michael D Linderman et al. BMC Medical Genomics
- Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process
- (2014) Kelly Caudle et al. CURRENT DRUG METABOLISM
- Clinical Interpretation and Implications of Whole-Genome Sequencing
- (2014) Frederick E. Dewey et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Comprehensive variation discovery in single human genomes
- (2014) Neil I Weisenfeld et al. NATURE GENETICS
- Reducing INDEL calling errors in whole genome and exome sequencing data
- (2014) Han Fang et al. Genome Medicine
- Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications
- (2013) Seema M. Jamal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
- (2012) Wendy S. Rubinstein et al. NUCLEIC ACIDS RESEARCH
- A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families
- (2012) Bingshan Li et al. PLoS Genetics
- Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor
- (2011) Eric R Londin et al. BMC GENOMICS
- Performance comparison of exome DNA sequencing technologies
- (2011) Michael J Clark et al. NATURE BIOTECHNOLOGY
- Repetitive DNA and next-generation sequencing: computational challenges and solutions
- (2011) Todd J. Treangen et al. NATURE REVIEWS GENETICS
- Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
- (2011) Daniel Aird et al. GENOME BIOLOGY
- Comparison of solution-based exome capture methods for next generation sequencing
- (2011) Anna-Maija Sulonen et al. GENOME BIOLOGY
- A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries
- (2011) Sheila Fisher et al. GENOME BIOLOGY
- COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
- (2010) S. A. Forbes et al. NUCLEIC ACIDS RESEARCH
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 MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started