Functional fine-mapping of noncoding risk variants in amyotrophic lateral sclerosis utilizing convolutional neural network

Functional annotation of noncoding causal variants in autoimmune diseases

(2019) Ali Yousefian-Jazi et al.   GENOMICS

Convolutional neural network model to predict causal risk factors that share complex regulatory features

(2019) Taeyeop Lee et al.   NUCLEIC ACIDS RESEARCH

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis

(2018) Priyam Narain et al.   NEUROBIOLOGY OF AGING

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

(2018) Hiroya Naruse et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Abnormal Microglia and Enhanced Inflammation-Related Gene Transcription in Mice with Conditional Deletion ofCtcfinCamk2a-Cre-Expressing Neurons.

(2017) Bryan E. McGill et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis

(2017) Michael A van Es et al.   LANCET

Neuroinflammation and ALS: Transcriptomic Insights into Molecular Disease Mechanisms and Therapeutic Targets

(2017) Giovanna Morello et al.   MEDIATORS OF INFLAMMATION

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study

(2017) Andrea Calvo et al.   MUSCLE & NERVE

Reconstruction of enhancer–target networks in 935 samples of human primary cells, tissues and cell lines

(2017) Qin Cao et al.   NATURE GENETICS

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

Annotating pathogenic non-coding variants in genic regions

(2017) Sahar Gelfman et al.   Nature Communications

Genetic Association between Amyotrophic Lateral Sclerosis and Cancer

(2017) Y-h. Taguchi et al.   Genes

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

TNFAIP1 contributes to the neurotoxicity induced by Aβ25–35 in Neuro2a cells

(2016) Ning Liu et al.   BMC NEUROSCIENCE

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse

(2016) Ye Zhang et al.   NEURON

SNP2TFBS – a database of regulatory SNPs affecting predicted transcription factor binding site affinity

(2016) Sunil Kumar et al.   NUCLEIC ACIDS RESEARCH

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

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

Enhancer variants: evaluating functions in common disease

(2014) Olivia Corradin et al.   Genome Medicine

Enhanced Regulatory Sequence Prediction Using Gapped k-mer Features

(2014) Mahmoud Ghandi et al.   PLoS Computational Biology

Integrated multi-cohort transcriptional meta-analysis of neurodegenerative diseases

(2014) Matthew D Li et al.   Acta Neuropathologica Communications

Microglial Phenotype Is Regulated by Activity of the Transcription Factor, NFAT (Nuclear Factor of Activated T Cells)

(2013) K. Nagamoto-Combs et al.   JOURNAL OF NEUROSCIENCE

Learning classification models with soft-label information

(2013) Quang Nguyen et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The microglial sensome revealed by direct RNA sequencing

(2013) Suzanne E Hickman et al.   NATURE NEUROSCIENCE

An expansive human regulatory lexicon encoded in transcription factor footprints

(2012) Shane Neph et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

FIMO: scanning for occurrences of a given motif

(2011) Charles E. Grant et al.   BIOINFORMATICS

The myeloid cells of the central nervous system parenchyma

(2010) Richard M. Ransohoff et al.   NATURE

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS