MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations
Published 2021 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations
Authors
Keywords
-
Journal
BMC Medical Genomics
Volume 14, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2021-02-13
DOI
10.1186/s12920-021-00893-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
- (2021) Rachel E. Rodin et al. NATURE NEUROSCIENCE
- Accurate detection of mosaic variants in sequencing data without matched controls
- (2020) Yanmei Dou et al. NATURE BIOTECHNOLOGY
- Identifying the tissues-of-origin of circulating cell-free DNAs is a promising way in noninvasive diagnostics
- (2020) Xiaoqing Peng et al. BRIEFINGS IN BIOINFORMATICS
- EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
- (2020) Alexander Hsieh et al. Genome Medicine
- Sensitivity assessment of droplet digital PCR for SARS-CoV-2 detection
- (2020) Luca Falzone et al. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
- Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations
- (2020) Kaitlyn Zenner et al. GENETICS IN MEDICINE
- Somatic mutations in neurodegeneration: An update
- (2020) Christos Proukakis NEUROBIOLOGY OF DISEASE
- Overgrowth syndromes — clinical and molecular aspects and tumour risk
- (2019) Frédéric Brioude et al. Nature Reviews Endocrinology
- Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods
- (2019) Lucie Coppin et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Cell-Free DNA Screening During Pregnancy
- (2019) Arnold W. Cohen et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Cell-Free DNA Screening During Pregnancy
- (2019) Anthony R. Gregg et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical utility of circulating tumor DNA for colorectal cancer
- (2019) Hiroki Osumi et al. CANCER SCIENCE
- Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer
- (2019) Thomas Reinert et al. JAMA Oncology
- Precise detection of low-level somatic mutation in resected epilepsy brain tissue
- (2019) Nam Suk Sim et al. ACTA NEUROPATHOLOGICA
- Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
- (2019) Zimeng Ye et al. EPILEPSY RESEARCH
- Cell-Free Fetal DNA in the Early and Late First Trimester
- (2019) Caroline Borregaard Miltoft et al. FETAL DIAGNOSIS AND THERAPY
- Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms
- (2019) Michael A Lodato et al. HUMAN MOLECULAR GENETICS
- The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
- (2019) Rosemary Burgess et al. ANNALS OF NEUROLOGY
- Targets, pitfalls and reference materials for liquid biopsy tests in cancer diagnostics
- (2019) Edward Geeurickx et al. MOLECULAR ASPECTS OF MEDICINE
- Sensitivity of mitochondrial DNA heteroplasmy detection using Next Generation Sequencing
- (2019) María del Mar González et al. MITOCHONDRION
- Monitoring of enterovirus diversity in wastewater by ultra-deep sequencing: An effective complementary tool for clinical enterovirus surveillance
- (2019) Maxime Bisseux et al. WATER RESEARCH
- Circulating Cell-Free DNA or Circulating Tumor DNA in the Management of Ovarian and Endometrial Cancer
- (2019) Qian Chen et al. OncoTargets and Therapy
- Robust identification of mosaic variants in congenital heart disease
- (2018) Kathryn B. Manheimer et al. HUMAN GENETICS
- Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines
- (2018) Somak Roy et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations
- (2018) et al. MOLECULES
- Detecting Somatic Mutations in Normal Cells
- (2018) Yanmei Dou et al. TRENDS IN GENETICS
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome
- (2018) Quitterie Venot et al. NATURE
- Somatic alterations in circulating cell-free DNA of oesophageal carcinoma patients during primary staging are indicative for post-surgical tumour recurrence
- (2018) Helen Pasternack et al. Scientific Reports
- Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease
- (2017) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Circulating tumor cells as liquid biomarker for high HCC recurrence risk after curative liver resection
- (2017) Johann von Felden et al. Oncotarget
- BAMClipper: removing primers from alignments to minimize false-negative mutations in amplicon next-generation sequencing
- (2017) Chun Hang Au et al. Scientific Reports
- Comparison of error correction algorithms for Ion Torrent PGM data: application to hepatitis B virus
- (2017) Liting Song et al. Scientific Reports
- Multiplexed enrichment of rare DNA variants via sequence-selective and temperature-robust amplification
- (2017) Lucia R. Wu et al. Nature Biomedical Engineering
- Evaluation of Methods for the Concentration and Extraction of Viruses from Sewage in the Context of Metagenomic Sequencing
- (2017) Mathis Hjort Hjelmsø et al. PLoS One
- High diversity of airborne fungi in the hospital environment as revealed by meta-sequencing-based microbiome analysis
- (2017) Xunliang Tong et al. Scientific Reports
- Analysis of Base-Position Error Rate of Next-Generation Sequencing to Detect Tumor Mutations in Circulating DNA
- (2016) Nicolas Pécuchet et al. CLINICAL CHEMISTRY
- Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies
- (2016) Kevin E. Fisher et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer
- (2016) Jeanne Tie et al. Science Translational Medicine
- Pollux: platform independent error correction of single and mixed genomes
- (2015) Eric Marinier et al. BMC BIOINFORMATICS
- Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics
- (2015) Jonatan Blais et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Unrevealed mosaicism in the next-generation sequencing era
- (2015) Marzena Gajecka MOLECULAR GENETICS AND GENOMICS
- Somatic mutation in single human neurons tracks developmental and transcriptional history
- (2015) M. A. Lodato et al. SCIENCE
- Clinical Validation of KRAS, BRAF, and EGFR Mutation Detection Using Next-Generation Sequencing
- (2014) Ming-Tseh Lin et al. AMERICAN JOURNAL OF CLINICAL PATHOLOGY
- Detection of Pathogenic Viruses in Sewage Provided Early Warnings of Hepatitis A Virus and Norovirus Outbreaks
- (2014) Maria Hellmér et al. APPLIED AND ENVIRONMENTAL MICROBIOLOGY
- Performance Comparison of Illumina and Ion Torrent Next-Generation Sequencing Platforms for 16S rRNA-Based Bacterial Community Profiling
- (2014) Stephen J. Salipante et al. APPLIED AND ENVIRONMENTAL MICROBIOLOGY
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- PCR-Induced Transitions Are the Major Source of Error in Cleaned Ultra-Deep Pyrosequencing Data
- (2013) Johanna Brodin et al. PLoS One
- Somatic Mutation, Genomic Variation, and Neurological Disease
- (2013) A. Poduri et al. SCIENCE
- A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers
- (2012) Michael Quail et al. BMC GENOMICS
- Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
- (2012) Gilad D. Evrony et al. CELL
- Human mitochondrial DNA: roles of inherited and somatic mutations
- (2012) Eric A. Schon et al. NATURE REVIEWS GENETICS
- Evaluation of a Droplet Digital Polymerase Chain Reaction Format for DNA Copy Number Quantification
- (2011) Leonardo B. Pinheiro et al. ANALYTICAL CHEMISTRY
- Mitochondrial DNA and disease
- (2011) Laura C Greaves et al. JOURNAL OF PATHOLOGY
- Ultra-deep sequencing for the analysis of viral populations
- (2011) Niko Beerenwinkel et al. Current Opinion in Virology
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- BatchPrimer3: A high throughput web application for PCR and sequencing primer design
- (2008) Frank M You et al. BMC BIOINFORMATICS
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 MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started