ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data
出版年份 2022 全文链接
标题
ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data
作者
关键词
-
出版物
BIOINFORMATICS
Volume 38, Issue 20, Pages 4754-4761
出版商
Oxford University Press (OUP)
发表日期
2022-09-05
DOI
10.1093/bioinformatics/btac603
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。- Detection of aberrant splicing events in RNA-seq data using FRASER
- (2021) Christian Mertes et al. Nature Communications
- LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
- (2020) Garrett Jenkinson et al. BIOINFORMATICS
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- (2019) Laure Frésard et al. NATURE MEDICINE
- Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
- (2019) Hane Lee et al. GENETICS IN MEDICINE
- Genetic regulatory variation in populations informs transcriptome analysis in rare disease
- (2019) Pejman Mohammadi et al. SCIENCE
- OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data
- (2018) Felix Brechtmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Genetic diagnosis of Mendelian disorders via RNA sequencing
- (2017) Laura S. Kremer et al. Nature Communications
- Translating RNA sequencing into clinical diagnostics: opportunities and challenges
- (2016) Sara A. Byron et al. NATURE REVIEWS GENETICS
- Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
- (2016) Maxim V. Kuleshov et al. NUCLEIC ACIDS RESEARCH
- Whole exome sequencing of suspected mitochondrial patients in clinical practice
- (2015) Saskia B. Wortmann et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
- (2015) Jenny C Taylor et al. NATURE GENETICS
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- Getting the most out of RNA-seq data analysis
- (2015) Tsung Fei Khang et al. PeerJ
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
- (2009) M. D. Robinson et al. BIOINFORMATICS
- RNA-Seq: a revolutionary tool for transcriptomics
- (2008) Zhong Wang et al. NATURE REVIEWS GENETICS
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