Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
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Title
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
Authors
Keywords
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Journal
NATURE GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-05-28
DOI
10.1038/s41588-019-0420-0
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Note: Only part of the references are listed.- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
- (2018) Donna M. Werling et al. NATURE GENETICS
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- (2017) Daniel J Weiner et al. NATURE GENETICS
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- (2017) Ryan K C Yuen et al. NATURE NEUROSCIENCE
- Smek1/2 is a nuclear chaperone and cofactor for cleaved Wnt receptor Ryk, regulating cortical neurogenesis
- (2017) Wen-Hsuan Chang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
- (2016) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
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- (2016) Arjun Krishnan et al. NATURE NEUROSCIENCE
- Neocortical neurogenesis and the etiology of autism spectrum disorder
- (2016) Alan Packer NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- PANTHER version 11: expanded annotation data from Gene Ontology and Reactome pathways, and data analysis tool enhancements
- (2016) Huaiyu Mi et al. NUCLEIC ACIDS RESEARCH
- Genome-wide characteristics of de novo mutations in autism
- (2016) Ryan KC Yuen et al. npj Genomic Medicine
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Understanding multicellular function and disease with human tissue-specific networks
- (2015) Casey S Greene et al. NATURE GENETICS
- Partitioning heritability by functional annotation using genome-wide association summary statistics
- (2015) Hilary K Finucane et al. NATURE GENETICS
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators
- (2015) Qinghong Yan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Low load for disruptive mutations in autism genes and their biased transmission
- (2015) Ivan Iossifov et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
- (2015) Justin Cotney et al. Nature Communications
- Fez family transcription factors: Controlling neurogenesis and cell fate in the developing mammalian nervous system
- (2014) Matthew J. Eckler et al. BIOESSAYS
- A gradient-boosting approach for filtering de novo mutations in parent–offspring trios
- (2014) Yongzhuang Liu et al. BIOINFORMATICS
- The discovery of integrated gene networks for autism and related disorders
- (2014) Fereydoun Hormozdiari et al. GENOME RESEARCH
- A promoter-level mammalian expression atlas
- (2014) NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Mapping Argonaute and conventional RNA-binding protein interactions with RNA at single-nucleotide resolution using HITS-CLIP and CIMS analysis
- (2014) Michael J Moore et al. Nature Protocols
- Gene Ontology Consortium: going forward
- (2014) NUCLEIC ACIDS RESEARCH
- CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
- (2014) Aarathi Sugathan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- GENCODE: The reference human genome annotation for The ENCODE Project
- (2012) J. Harrow et al. GENOME RESEARCH
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- The Neural/Immune Gene Ontology: clipping the Gene Ontology for neurological and immunological systems
- (2010) Nophar Geifman et al. BMC BIOINFORMATICS
- The NIH Roadmap Epigenomics Mapping Consortium
- (2010) Bradley E Bernstein et al. NATURE BIOTECHNOLOGY
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- Autism and Brain Development
- (2008) Christopher A. Walsh et al. CELL
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