标题
Contribution of retrotransposition to developmental disorders
作者
关键词
-
出版物
Nature Communications
Volume 10, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-10-11
DOI
10.1038/s41467-019-12520-y
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。- The Landscape of L1 Retrotransposons in the Human Genome Is Shaped by Pre-insertion Sequence Biases and Post-insertion Selection
- (2019) Tania Sultana et al. MOLECULAR CELL
- Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations
- (2019) Joanna Kaplanis et al. GENOME RESEARCH
- Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
- (2018) Tatsiana Aneichyk et al. CELL
- Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
- (2018) Caroline F Wright et al. GENETICS IN MEDICINE
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
- (2018) Mari E. K. Niemi et al. NATURE
- De novo mutations in regulatory elements in neurodevelopmental disorders
- (2018) Patrick J. Short et al. NATURE
- Pathogenicity and selective constraint on variation near splice sites
- (2018) Jenny Lord et al. GENOME RESEARCH
- Integrative functional genomic analysis of human brain development and neuropsychiatric risks
- (2018) Mingfeng Li et al. SCIENCE
- Quantifying the contribution of recessive coding variation to developmental disorders
- (2018) Hilary C. Martin et al. SCIENCE
- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology
- (2017) Eugene J. Gardner et al. GENOME RESEARCH
- Detection of structural mosaicism from targeted and whole-genome sequencing data
- (2017) Daniel A. King et al. GENOME RESEARCH
- Parental influence on human germline de novo mutations in 1,548 trios from Iceland
- (2017) Hákon Jónsson et al. NATURE
- Nucleic Acids Research
- (2017) NUCLEIC ACIDS RESEARCH
- Protein-Coding Genes’ Retrocopies and Their Functions
- (2017) Magdalena Regina Kubiak et al. Viruses-Basel
- Landscape and variation of novel retroduplications in 26 human populations
- (2017) Yan Zhang et al. PLoS Computational Biology
- Frequency and Complexity of De Novo Structural Mutation in Autism
- (2016) William M. Brandler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
- (2016) Jayne Y. Hehir-Kwa et al. Nature Communications
- Roles for retrotransposon insertions in human disease
- (2016) Dustin C. Hancks et al. Mobile DNA
- Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability
- (2015) Lars Björn Riecken et al. HUMAN MUTATION
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- Ensembl Genomes 2016: more genomes, more complexity
- (2015) Paul Julian Kersey et al. NUCLEIC ACIDS RESEARCH
- The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
- (2015) et al. SCIENCE
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations
- (2013) D. J. Witherspoon et al. GENOME RESEARCH
- Rates and patterns of great ape retrotransposition
- (2013) F. Hormozdiari et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory
- (2012) Mark J Chaisson et al. BMC BIOINFORMATICS
- Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
- (2012) H. Thorvaldsdottir et al. BRIEFINGS IN BIOINFORMATICS
- Primer3—new capabilities and interfaces
- (2012) Andreas Untergasser et al. NUCLEIC ACIDS RESEARCH
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- Large-scale discovery of enhancers from human heart tissue
- (2011) Dalit May et al. NATURE GENETICS
- Distributions of Transposable Elements Reveal Hazardous Zones in Mammalian Introns
- (2011) Ying Zhang et al. PLoS Computational Biology
- A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans
- (2011) Chip Stewart et al. PLoS Genetics
- The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
- (2011) Katharina Wimmer et al. PLoS Genetics
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- High-throughput sequencing reveals extensive variation in human-specific L1 content in individual human genomes
- (2010) A. D. Ewing et al. GENOME RESEARCH
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now