Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …
Single-cell transcriptomic analysis of human lung provides insights into the pathobiology of pulmonary fibrosis
PA Reyfman, JM Walter, N Joshi… - American journal of …, 2019 - atsjournals.org
Rationale: The contributions of diverse cell populations in the human lung to pulmonary
fibrosis pathogenesis are poorly understood. Single-cell RNA sequencing can reveal …
fibrosis pathogenesis are poorly understood. Single-cell RNA sequencing can reveal …
Expression Atlas update: from tissues to single cells
I Papatheodorou, P Moreno, J Manning… - Nucleic acids …, 2020 - academic.oup.com
Abstract Expression Atlas is EMBL-EBI's resource for gene and protein expression. It
sources and compiles data on the abundance and localisation of RNA and proteins in …
sources and compiles data on the abundance and localisation of RNA and proteins in …
Predicting splicing from primary sequence with deep learning
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …
mechanisms by which the cellular machinery achieves such specificity are incompletely …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
An introduction to machine learning
S Badillo, B Banfai, F Birzele, II Davydov… - Clinical …, 2020 - Wiley Online Library
In the last few years, machine learning (ML) and artificial intelligence have seen a new wave
of publicity fueled by the huge and ever‐increasing amount of data and computational …
of publicity fueled by the huge and ever‐increasing amount of data and computational …
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
The UCSC genome browser database: 2019 update
Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is a graphical viewer for
exploring genome annotations. For almost two decades, the Browser has provided …
exploring genome annotations. For almost two decades, the Browser has provided …
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …