Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

(2021) Dimitrios Vitsios et al.   Nature Communications

An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

(2021) Misbah Razzaq et al.   Scientific Reports

CD226 deficiency promotes glutaminolysis and alleviates mitochondria damage in vascular endothelial cells under hemorrhagic shock

(2021) Shangxun Zhou et al.   FASEB JOURNAL

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

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

(2020) Konrad J. Karczewski et al.   NATURE

Expanded encyclopaedias of DNA elements in the human and mouse genomes

(2020) Jill E. Moore et al.   NATURE

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

(2020) Ming-Huei Chen et al.   CELL

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies

(2019) Zilin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic and Transcriptomic Association Studies Identify 16 Novel Susceptibility Loci for Venous Thromboembolism

(2019) Sara Lindstrom et al.   BLOOD

Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions

(2019) Mihail Halachev et al.   PLoS Genetics

Genome-wide prediction of cis-regulatory regions using supervised deep learning methods

(2018) Yifeng Li et al.   BMC BIOINFORMATICS

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

Anemia of inflammation

(2018) Guenter Weiss et al.   BLOOD

A map of constrained coding regions in the human genome

(2018) James M. Havrilla et al.   NATURE GENETICS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data

(2017) Yi-Fei Huang et al.   NATURE GENETICS

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

(2017) Céline Bellenguez et al.   NEUROBIOLOGY OF AGING

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

(2017) Shashikant Pujar et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

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

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

(2016) Xiaowei Zhan et al.   BIOINFORMATICS

First venous thromboembolism in admitted patients younger than 50years old

(2016) Anne-Laure Roupie et al.   European Journal of Internal Medicine

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Anemia of Inflammation

(2014) Elizabeta Nemeth et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

(2012) Lucy W. Barrett et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

JAK-STAT and AKT pathway-coupled genes in erythroid progenitor cells through ontogeny

(2012) Vladan P Cokic et al.   Journal of Translational Medicine

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

Genetics of Venous Thrombosis: Insights from a New Genome Wide Association Study

(2011) Marine Germain et al.   PLoS One

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

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