标题
Detecting tandem repeat variants in coding regions using code-adVNTR
作者
关键词
-
出版物
iScience
Volume 25, Issue 8, Pages 104785
出版商
Elsevier BV
发表日期
2022-07-19
DOI
10.1016/j.isci.2022.104785
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。- Repeat DNA expands our understanding of autism spectrum disorder
- (2021) Anthony J. Hannan NATURE
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
- (2021) Doruk Beyter et al. NATURE GENETICS
- Variable number tandem repeats mediate the expression of proximal genes
- (2021) Mehrdad Bakhtiari et al. Nature Communications
- Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
- (2021) Meredith M. Course et al. GENOME RESEARCH
- Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
- (2021) Ronen E. Mukamel et al. SCIENCE
- Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
- (2021) Tsung-Yu Lu et al. Nature Communications
- Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma
- (2019) Yuwei Li et al. Frontiers in Genetics
- ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
- (2019) Egor Dolzhenko et al. BIOINFORMATICS
- Profiling the genome-wide landscape of tandem repeat expansions
- (2019) Nima Mousavi et al. NUCLEIC ACIDS RESEARCH
- Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
- (2019) Peter Edge et al. Nature Communications
- Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
- (2018) Andrea Wenzel et al. Scientific Reports
- Targeted genotyping of variable number tandem repeats with adVNTR
- (2018) Mehrdad Bakhtiari et al. GENOME RESEARCH
- Denoising DNA deep sequencing data—high-throughput sequencing errors and their correction
- (2015) David Laehnemann et al. BRIEFINGS IN BIOINFORMATICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
- (2014) Rosalind Law et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
- (2014) Arif B. Ekici et al. KIDNEY INTERNATIONAL
- De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability
- (2013) Mohammed Almuqbil et al. European Journal of Medical Genetics
- The VNTR in complex disorders: The forgotten polymorphisms? A functional way forward?
- (2013) K.J. Brookes GENOMICS
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- (2013) Andrew Kirby et al. NATURE GENETICS
- ART: a next-generation sequencing read simulator
- (2011) Weichun Huang et al. BIOINFORMATICS
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- The German Chronic Kidney Disease (GCKD) study: design and methods
- (2011) K.-U. Eckardt et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
- (2009) Janniche Torsvik et al. HUMAN GENETICS
- A length polymorphism in the circadian clock gene Per3 influences age at onset of bipolar disorder
- (2008) Francesco Benedetti et al. NEUROSCIENCE LETTERS
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