Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

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Small-molecule G-quadruplex stabilizers reveal a novel pathway of autophagy regulation in neurons

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The mutational constraint spectrum quantified from variation in 141,456 humans

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Reduction of mNAT1/hNAT2 Contributes to Cerebral Endothelial Necroptosis and Aβ Accumulation in Alzheimer’s Disease

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Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis

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Genetic reduction of eEF2 kinase alleviates pathophysiology in Alzheimer’s disease model mice

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WITER: a powerful method for estimation of cancer-driver genes using a weighted iterative regression modelling background mutation counts

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Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

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A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population

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Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

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Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development

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ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

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Using high-resolution variant frequencies to empower clinical genome interpretation

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Association of transcription factor 4 (TCF4) gene mRNA level with schizophrenia, its psychopathology, intelligence and cognitive impairments

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Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

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Plasma Homocysteine and Serum Folate and Vitamin B12 Levels in Mild Cognitive Impairment and Alzheimer’s Disease: A Case-Control Study

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RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data: Table 1.

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Analysis of protein-coding genetic variation in 60,706 humans

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Evaluating the evaluation of cancer driver genes

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The UK10K project identifies rare variants in health and disease

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Genome-wide patterns and properties of de novo mutations in humans

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The effects of chromatin organization on variation in mutation rates in the genome

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The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

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Rare-Variant Association Analysis: Study Designs and Statistical Tests

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The role of eEF2 pathway in learning and synaptic plasticity

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Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

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Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

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(2012) Lucas D Ward et al.   NATURE BIOTECHNOLOGY

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

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Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

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A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

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Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

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