标题
Accurate detection of mosaic variants in sequencing data without matched controls
作者
关键词
-
出版物
NATURE BIOTECHNOLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-01-07
DOI
10.1038/s41587-019-0368-8
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。- Linked-read analysis identifies mutations in single-cell DNA-sequencing data
- (2019) Craig L. Bohrson et al. NATURE GENETICS
- Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms
- (2018) Maura Costello et al. BMC GENOMICS
- A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations
- (2018) Adam Yongxin Ye et al. GENOME RESEARCH
- Strelka2: fast and accurate calling of germline and somatic variants
- (2018) Sangtae Kim et al. NATURE METHODS
- Detecting Somatic Mutations in Normal Cells
- (2018) Yanmei Dou et al. TRENDS IN GENETICS
- Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs
- (2018) August Yue Huang et al. PLoS Genetics
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- The UCSC Genome Browser database: 2019 update
- (2018) Maximilian Haeussler et al. NUCLEIC ACIDS RESEARCH
- Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
- (2017) Yanmei Dou et al. HUMAN MUTATION
- Somatic mutations reveal asymmetric cellular dynamics in the early human embryo
- (2017) Young Seok Ju et al. NATURE
- Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
- (2017) Elaine T Lim et al. NATURE NEUROSCIENCE
- The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia
- (2017) Maria Tiana et al. NUCLEIC ACIDS RESEARCH
- MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
- (2017) August Yue Huang et al. NUCLEIC ACIDS RESEARCH
- DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification
- (2017) Lixin Chen et al. SCIENCE
- Aging and neurodegeneration are associated with increased mutations in single human neurons
- (2017) Michael A. Lodato et al. SCIENCE
- Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
- (2017) Taejeong Bae et al. SCIENCE
- Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
- (2017) Xiaoxu Yang et al. Scientific Reports
- The Contribution of Mosaic Variants to Autism Spectrum Disorder
- (2016) Donald Freed et al. PLoS Genetics
- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- Somatic mutation in single human neurons tracks developmental and transcriptional history
- (2015) M. A. Lodato et al. SCIENCE
- A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
- (2015) Tyler S. Alioto et al. Nature Communications
- Building Predictive Models inRUsing thecaretPackage
- (2015) Max Kuhn Journal of Statistical Software
- Regularization Paths for Generalized Linear Models via Coordinate Descent
- (2015) Jerome Friedman et al. Journal of Statistical Software
- Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals
- (2014) August Y Huang et al. CELL RESEARCH
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data
- (2013) Lauren M. Bragg et al. PLoS Computational Biology
- Identification and correction of systematic error in high-throughput sequence data
- (2011) Frazer Meacham et al. BMC BIOINFORMATICS
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
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