Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

(2022) Jamie M. Ellingford et al.   Genome Medicine

Enhancer RNAs: transcriptional regulators and workmates of NamiRNAs in myogenesis

(2021) Emmanuel Odame et al.   CELLULAR & MOLECULAR BIOLOGY LETTERS

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation

(2021) Shuquan Rao et al.   Genome Medicine

DIANA-miTED: a microRNA tissue expression database

(2021) Ioannis Kavakiotis et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2022

(2021) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

Familial analysis reveals rare risk variants for migraine in regulatory regions

(2020) Tanya Ramdal Techlo et al.   NEUROGENETICS

Rare variant association testing in the non-coding genome

(2020) Ozvan Bocher et al.   HUMAN GENETICS

Expanded encyclopaedias of DNA elements in the human and mouse genomes

(2020) Jill E. Moore et al.   NATURE

SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update)

(2020) Jorge Oscanoa et al.   NUCLEIC ACIDS RESEARCH

Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case‐Control Association Study

(2020) Marlene Quintas et al.   HEADACHE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Where Are the Disease-Associated eQTLs?

(2020) Benjamin D. Umans et al.   TRENDS IN GENETICS

Advances in genetics of migraine

(2019) Heidi G. Sutherland et al.   JOURNAL OF HEADACHE AND PAIN

miRDB: an online database for prediction of functional microRNA targets

(2019) Yuhao Chen et al.   NUCLEIC ACIDS RESEARCH

Regulatory variants: from detection to predicting impact

(2018) Elena Rojano et al.   BRIEFINGS IN BIOINFORMATICS

Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition

(2018)   CEPHALALGIA

IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome

(2018) Jun Wang et al.   NUCLEIC ACIDS RESEARCH

Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses

(2018) Jing Zhang et al.   BioData Mining

Update of the FANTOM web resource: expansion to provide additional transcriptome atlases

(2018) Marina Lizio et al.   NUCLEIC ACIDS RESEARCH

Family studies to find rare high risk variants in migraine

(2017) Rikke Dyhr Hansen et al.   JOURNAL OF HEADACHE AND PAIN

HOCOMOCO: towards a complete collection of transcription factor binding models for human and mouse via large-scale ChIP-Seq analysis

(2017) Ivan V Kulakovskiy et al.   NUCLEIC ACIDS RESEARCH

The human protein atlas: A spatial map of the human proteome

(2017) Peter J. Thul et al.   PROTEIN SCIENCE

CScape: a tool for predicting oncogenic single-point mutations in the cancer genome

(2017) Mark F. Rogers et al.   Scientific Reports

Predicting regulatory variants with composite statistic

(2016) Mulin Jun Li et al.   BIOINFORMATICS

CTCF-mediated chromatin loops enclose inducible gene regulatory domains

(2016) Martin Oti et al.   BMC GENOMICS

The Genetics of Transcription Factor DNA Binding Variation

(2016) Bart Deplancke et al.   CELL

Enhancer–promoter interactions are encoded by complex genomic signatures on looping chromatin

(2016) Sean Whalen et al.   NATURE GENETICS

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

(2016) Padhraig Gormley et al.   NATURE GENETICS

MicroRNAs activate gene transcription epigenetically as an enhancer trigger

(2016) Min Xiao et al.   RNA Biology

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

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Meta-analysis of the heritability of human traits based on fifty years of twin studies

(2015) Tinca J C Polderman et al.   NATURE GENETICS

Gateways to the FANTOM5 promoter level mammalian expression atlas

(2015) Marina Lizio et al.   GENOME BIOLOGY

Association between SNAP-25 gene polymorphisms and cognition in autism: functional consequences and potential therapeutic strategies

(2015) D Braida et al.   Translational Psychiatry

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Common features of microRNA target prediction tools

(2014) Sarah M. Peterson et al.   Frontiers in Genetics

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

DNA Variation in the SNAP25 Gene Confers Risk to ADHD and Is Associated with Reduced Expression in Prefrontal Cortex

(2013) Ziarih Hawi et al.   PLoS One

Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility

(2013) Marlene Quintas et al.   PLoS One

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Evidence of Syntaxin 1A Involvement in Migraine Susceptibility

(2010) Carolina Lemos et al.   ARCHIVES OF NEUROLOGY

The SNAP25 Gene Is Linked to Working Memory Capacity and Maturation of the Posterior Cingulate Cortex During Childhood

(2010) Stina Söderqvist et al.   BIOLOGICAL PSYCHIATRY

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

miRBase: integrating microRNA annotation and deep-sequencing data

(2010) A. Kozomara et al.   NUCLEIC ACIDS RESEARCH

ChIP-seq accurately predicts tissue-specific activity of enhancers

(2009) Axel Visel et al.   NATURE

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

Common variants underlying cognitive ability: further evidence for association between the SNAP-25 gene and cognition using a family-based study in two independent Dutch cohorts

(2007) M. F. Gosso et al.   GENES BRAIN AND BEHAVIOR