标题
Rare variant association testing in the non-coding genome
作者
关键词
-
出版物
HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-06-05
DOI
10.1007/s00439-020-02190-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。- Convex combination sequence kernel association test for rare-variant studies
- (2020) Daniel C. Posner et al. GENETIC EPIDEMIOLOGY
- Towards a comprehensive catalogue of validated and target-linked human enhancers
- (2020) Molly Gasperini et al. NATURE REVIEWS GENETICS
- Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
- (2020) Elizabeth T. Cirulli et al. Nature Communications
- Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases
- (2020) J. Nicholas Cochran et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants
- (2020) Evgeny Z. Kvon et al. CELL
- Whole-genome sequencing of a sporadic primary immunodeficiency cohort
- (2020) James E. D. Thaventhiran et al. NATURE
- Most chromatin interactions are not in linkage disequilibrium
- (2019) Sean Whalen et al. GENOME RESEARCH
- Biological relevance of computationally predicted pathogenicity of noncoding variants
- (2019) Li Liu et al. Nature Communications
- Genomic Analysis in the Age of Human Genome Sequencing
- (2019) Tuuli Lappalainen et al. CELL
- ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
- (2019) Yaowu Liu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies
- (2019) Zilin Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare variant association testing for multicategory phenotype
- (2019) Ozvan Bocher et al. GENETIC EPIDEMIOLOGY
- Chromatin three-dimensional interactions mediate genetic effects on gene expression
- (2019) O. Delaneau et al. SCIENCE
- FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data
- (2019) Yiding Ma et al. PLoS Genetics
- Predicting functional variants in enhancer and promoter elements using RegulomeDB
- (2019) Shengcheng Dong et al. HUMAN MUTATION
- A genome-wide scan statistic framework for whole-genome sequence data analysis
- (2019) Zihuai He et al. Nature Communications
- Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer
- (2019) Manu Shivakumar et al. Frontiers in Oncology
- regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants
- (2019) Shijie Zhang et al. NUCLEIC ACIDS RESEARCH
- Rare-variant collapsing analyses for complex traits: guidelines and applications
- (2019) Gundula Povysil et al. NATURE REVIEWS GENETICS
- Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data
- (2019) Alejandra Vergara-Lope et al. Scientific Data
- A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies
- (2018) Yuwen Liu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Regulatory variants: from detection to predicting impact
- (2018) Elena Rojano et al. BRIEFINGS IN BIOINFORMATICS
- FastSKAT: Sequence kernel association tests for very large sets of markers
- (2018) Thomas Lumley et al. GENETIC EPIDEMIOLOGY
- An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder
- (2018) Sarah M. Williams et al. MOLECULAR PSYCHIATRY
- The human noncoding genome defined by genetic diversity
- (2018) Julia di Iulio et al. NATURE GENETICS
- Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation
- (2018) Joshua C. Bis et al. MOLECULAR PSYCHIATRY
- Enhancer redundancy provides phenotypic robustness in mammalian development
- (2018) Marco Osterwalder et al. NATURE
- Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
- (2018) Stephane E. Castel et al. NATURE GENETICS
- Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts
- (2018) John R. Shaffer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
- (2017) Andrew S Allen et al. LANCET NEUROLOGY
- Characterization of noncoding regulatory DNA in the human genome
- (2017) Ran Elkon et al. NATURE BIOTECHNOLOGY
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
- (2017) Yi-Fei Huang et al. NATURE GENETICS
- DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease
- (2017) Elodie Persyn et al. PLoS One
- Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics
- (2017) Ayal B. Gussow et al. PLoS One
- Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms
- (2017) Sierra S. Nishizaki et al. TRENDS IN GENETICS
- The Weighting is the Hardest Part: On the Behavior of the Likelihood Ratio Test and the Score Test Under a Data-Driven Weighting Scheme in Sequenced Samples
- (2017) Camelia C. Minică et al. Twin Research and Human Genetics
- Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants
- (2017) Max Schubach et al. Scientific Reports
- Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer’s disease
- (2017) Qiongshi Lu et al. PLoS Genetics
- Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants
- (2017) Wan-Yu Lin et al. Scientific Reports
- Chromosome conformation capture technologies and their impact in understanding genome function
- (2016) Satish Sati et al. CHROMOSOMA
- Discovery of rare variants for complex phenotypes
- (2016) Jack A. Kosmicki et al. HUMAN GENETICS
- Looking beyond the genes: the role of non-coding variants in human disease
- (2016) Malte Spielmann et al. HUMAN MOLECULAR GENETICS
- The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes
- (2016) Xiaoming Liu et al. JOURNAL OF MEDICAL GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- The mutation significance cutoff: gene-level thresholds for variant predictions
- (2016) Yuval Itan et al. NATURE METHODS
- Organization and function of the 3D genome
- (2016) Boyan Bonev et al. NATURE REVIEWS GENETICS
- Regulation of disease-associated gene expression in the 3D genome
- (2016) Peter Hugo Lodewijk Krijger et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Incorporating Non-Coding Annotations into Rare Variant Analysis
- (2016) Tom G. Richardson et al. PLoS One
- A Protein Domain and Family Based Approach to Rare Variant Association Analysis
- (2016) Tom G. Richardson et al. PLoS One
- An integrative approach to predicting the functional effects of non-coding and coding sequence variation
- (2015) Hashem A. Shihab et al. BIOINFORMATICS
- Disease-associated variants in different categories of disease located in distinct regulatory elements
- (2015) Meng Ma et al. BMC GENOMICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Non-coding genetic variants in human disease: Figure 1.
- (2015) Feng Zhang et al. HUMAN MOLECULAR GENETICS
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo
- (2015) Matthew T Maurano et al. NATURE GENETICS
- Partitioning heritability by functional annotation using genome-wide association summary statistics
- (2015) Hilary K Finucane et al. NATURE GENETICS
- Predicting effects of noncoding variants with deep learning–based sequence model
- (2015) Jian Zhou et al. NATURE METHODS
- The role of regulatory variation in complex traits and disease
- (2015) Frank W. Albert et al. NATURE REVIEWS GENETICS
- Whole-genome sequence-based analysis of thyroid function
- (2015) Peter N. Taylor et al. Nature Communications
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data
- (2014) Gao T. Wang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare-Variant Association Analysis: Study Designs and Statistical Tests
- (2014) Seunggeung Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
- (2014) Alexander Gusev et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137 / MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder
- (2014) Jubao Duan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database
- (2014) R. Leslie et al. BIOINFORMATICS
- DANN: a deep learning approach for annotating the pathogenicity of genetic variants
- (2014) Daniel Quang et al. BIOINFORMATICS
- How important are rare variants in common disease?
- (2014) A. Saint Pierre et al. Briefings in Functional Genomics
- A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
- (2014) Suhas S.P. Rao et al. CELL
- Methods for Collapsing Multiple Rare Variants in Whole-Genome Sequence Data
- (2014) Yun Ju Sung et al. GENETIC EPIDEMIOLOGY
- Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies
- (2014) ChangJiang Xu et al. GENETIC EPIDEMIOLOGY
- A promoter-level mammalian expression atlas
- (2014) NATURE
- Functional annotation of noncoding sequence variants
- (2014) Graham R S Ritchie et al. NATURE METHODS
- CTCF: an architectural protein bridging genome topology and function
- (2014) Chin-Tong Ong et al. NATURE REVIEWS GENETICS
- Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results
- (2014) Andriy Derkach et al. STATISTICAL SCIENCE
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- GWAS3D: detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications
- (2013) Mulin Jun Li et al. NUCLEIC ACIDS RESEARCH
- Detection and Impact of Rare Regulatory Variants in Human Disease
- (2013) Xin Li et al. Frontiers in Genetics
- A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation
- (2012) Michael P. Epstein et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
- (2012) Seunggeun Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Annotation of functional variation in personal genomes using RegulomeDB
- (2012) A. P. Boyle et al. GENOME RESEARCH
- Topological domains in mammalian genomes identified by analysis of chromatin interactions
- (2012) Jesse R. Dixon et al. NATURE
- Enhancers and silencers: an integrated and simple model for their function
- (2012) Petros Kolovos et al. Epigenetics & Chromatin
- The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals
- (2012) Martin Ladouceur et al. PLoS Genetics
- Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
- (2011) Michael C. Wu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Incorporating model uncertainty in detecting rare variants: the Bayesian risk index
- (2011) Melanie A. Quintana et al. GENETIC EPIDEMIOLOGY
- Testing for an Unusual Distribution of Rare Variants
- (2011) Benjamin M. Neale et al. PLoS Genetics
- Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
- (2010) Alkes L. Price et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evolutionary evidence of the effect of rare variants on disease etiology
- (2010) IP Gorlov et al. CLINICAL GENETICS
- The NIH Roadmap Epigenomics Mapping Consortium
- (2010) Bradley E Bernstein et al. NATURE BIOTECHNOLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
- (2010) Gerald D. Fischbach et al. NEURON
- Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
- (2009) L. A. Hindorff et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
- (2009) Bo Eskerod Madsen et al. PLoS Genetics
- Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data
- (2008) Bingshan Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd 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