Functional annotation of rare structural variation in the human brain
Published 2020 View Full Article
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Title
Functional annotation of rare structural variation in the human brain
Authors
Keywords
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Journal
Nature Communications
Volume 11, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-06-12
DOI
10.1038/s41467-020-16736-1
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Note: Only part of the references are listed.- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
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- (2019) Geoff Fudenberg et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2018) Donna M. Werling et al. NATURE GENETICS
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- (2018) Patrick J. Short et al. NATURE
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- (2018) Daifeng Wang et al. SCIENCE
- The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology
- (2017) Eugene J. Gardner et al. GENOME RESEARCH
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Genetic effects on gene expression across human tissues
- (2017) François Aguet et al. NATURE
- Erratum: Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
- (2017) NATURE GENETICS
- The impact of structural variation on human gene expression
- (2017) Colby Chiang et al. NATURE GENETICS
- Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders
- (2017) Joseph T. Glessner et al. Genome Medicine
- Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
- (2016) Douglas M Ruderfer et al. NATURE GENETICS
- Gene expression elucidates functional impact of polygenic risk for schizophrenia
- (2016) Menachem Fromer et al. NATURE NEUROSCIENCE
- Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
- (2015) Xiaoyu Chen et al. BIOINFORMATICS
- The impact of human copy number variation on gene expression: Figure 1
- (2015) Eric R. Gamazon et al. Briefings in Functional Genomics
- Copy Number Variations and Cognitive Phenotypes in Unselected Populations
- (2015) Katrin Männik et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- Large multiallelic copy number variations in humans
- (2015) Robert E Handsaker et al. NATURE GENETICS
- limma powers differential expression analyses for RNA-sequencing and microarray studies
- (2015) Matthew E. Ritchie et al. NUCLEIC ACIDS RESEARCH
- Effect of predicted protein-truncating genetic variants on the human transcriptome
- (2015) M. A. Rivas et al. SCIENCE
- Wham: Identifying Structural Variants of Biological Consequence
- (2015) Zev N. Kronenberg et al. PLoS Computational Biology
- Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
- (2014) Ian Blumenthal et al. AMERICAN JOURNAL OF HUMAN GENETICS
- When Deletions Gain Functions: Commandeering Epigenetic Mechanisms
- (2014) Justin Chen et al. CANCER CELL
- Copy Number Variation in Schizophrenia
- (2014) Suleyman Gulsuner et al. NEUROPSYCHOPHARMACOLOGY
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- voom: precision weights unlock linear model analysis tools for RNA-seq read counts
- (2014) Charity W Law et al. GENOME BIOLOGY
- featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
- (2013) Y. Liao et al. BIOINFORMATICS
- CNVs conferring risk of autism or schizophrenia affect cognition in controls
- (2013) Hreinn Stefansson et al. NATURE
- Phenotypic impact of genomic structural variation: insights from and for human disease
- (2013) Joachim Weischenfeldt et al. NATURE REVIEWS GENETICS
- Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
- (2012) Rui Luo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DELLY: structural variant discovery by integrated paired-end and split-read analysis
- (2012) T. Rausch et al. BIOINFORMATICS
- STAR: ultrafast universal RNA-seq aligner
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- Removing technical variability in RNA-seq data using conditional quantile normalization
- (2012) K. D. Hansen et al. BIOSTATISTICS
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- RNA-Seq: a revolutionary tool for transcriptomics
- (2008) Zhong Wang et al. NATURE REVIEWS GENETICS
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