A comprehensive map of molecular drug targets
The success of mechanism-based drug discovery depends on the definition of the drug
target. This definition becomes even more important as we try to link drug response to …
target. This definition becomes even more important as we try to link drug response to …
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation …
PD Stenson, M Mort, EV Ball, K Evans, M Hayden… - Human genetics, 2017 - Springer
Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …
collection of published germline mutations in nuclear genes that underlie, or are closely …
Predicting effective microRNA target sites in mammalian mRNAs
MicroRNA targets are often recognized through pairing between the miRNA seed region
and complementary sites within target mRNAs, but not all of these canonical sites are …
and complementary sites within target mRNAs, but not all of these canonical sites are …
StringTie enables improved reconstruction of a transcriptome from RNA-seq reads
Methods used to sequence the transcriptome often produce more than 200 million short
sequences. We introduce StringTie, a computational method that applies a network flow …
sequences. We introduce StringTie, a computational method that applies a network flow …
Tissue-based map of the human proteome
INTRODUCTION Resolving the molecular details of proteome variation in the different
tissues and organs of the human body would greatly increase our knowledge of human …
tissues and organs of the human body would greatly increase our knowledge of human …
An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex
The major cell classes of the brain differ in their developmental processes, metabolism,
signaling, and function. To better understand the functions and interactions of the cell types …
signaling, and function. To better understand the functions and interactions of the cell types …
REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Motivation: Next-generation sequencing technologies generate millions of short sequence
reads, which are usually aligned to a reference genome. In many applications, the key …
reads, which are usually aligned to a reference genome. In many applications, the key …
[HTML][HTML] An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium - Nature, 2012 - ncbi.nlm.nih.gov
The human genome encodes the blueprint of life, but the function of the vast majority of its
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) …
Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics
L Fagerberg, BM Hallström, P Oksvold, C Kampf… - Molecular & cellular …, 2014 - ASBMB
Global classification of the human proteins with regards to spatial expression patterns
across organs and tissues is important for studies of human biology and disease. Here, we …
across organs and tissues is important for studies of human biology and disease. Here, we …