A review of biomedical datasets relating to drug discovery: a knowledge graph perspective

S Bonner, IP Barrett, C Ye, R Swiers… - Briefings in …, 2022 - academic.oup.com
Drug discovery and development is a complex and costly process. Machine learning
approaches are being investigated to help improve the effectiveness and speed of multiple …

The HLA genomic loci map: expression, interaction, diversity and disease

T Shiina, K Hosomichi, H Inoko, JK Kulski - Journal of human genetics, 2009 - nature.com
The human leukocyte antigen (HLA) super-locus is a genomic region in the chromosomal
position 6p21 that encodes the six classical transplantation HLA genes and at least 132 …

Discovery and prioritization of variants and genes for kidney function in> 1.2 million individuals

KJ Stanzick, Y Li, P Schlosser, M Gorski… - Nature …, 2021 - nature.com
Genes underneath signals from genome-wide association studies (GWAS) for kidney
function are promising targets for functional studies, but prioritizing variants and genes is …

Necroptosis activation in Alzheimer's disease

A Caccamo, C Branca, IS Piras, E Ferreira… - Nature …, 2017 - nature.com
Alzheimer's disease (AD) is characterized by severe neuronal loss; however, the
mechanisms by which neurons die remain elusive. Necroptosis, a programmed form of …

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

EY Chen, CM Tan, Y Kou, Q Duan, Z Wang… - BMC …, 2013 - Springer
Background System-wide profiling of genes and proteins in mammalian cells produce lists of
differentially expressed genes/proteins that need to be further analyzed for their collective …

AnnotSV: an integrated tool for structural variations annotation

V Geoffroy, Y Herenger, A Kress, C Stoetzel… - …, 2018 - academic.oup.com
Structural Variations (SV) are a major source of variability in the human genome that shaped
its actual structure during evolution. Moreover, many human diseases are caused by SV …

PharmKG: a dedicated knowledge graph benchmark for bomedical data mining

S Zheng, J Rao, Y Song, J Zhang, X Xiao… - Briefings in …, 2021 - academic.oup.com
Biomedical knowledge graphs (KGs), which can help with the understanding of complex
biological systems and pathologies, have begun to play a critical role in medical practice …

[HTML][HTML] miRWalk–database: prediction of possible miRNA binding sites by “walking” the genes of three genomes

H Dweep, C Sticht, P Pandey, N Gretz - Journal of biomedical informatics, 2011 - Elsevier
MicroRNAs are small, non-coding RNA molecules that can complementarily bind to the
mRNA 3′-UTR region to regulate the gene expression by transcriptional repression or …

An integrative approach to ortholog prediction for disease-focused and other functional studies

Y Hu, I Flockhart, A Vinayagam, C Bergwitz, B Berger… - BMC …, 2011 - Springer
Background Mapping of orthologous genes among species serves an important role in
functional genomics by allowing researchers to develop hypotheses about gene function in …

Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes

W Wei, KR Schon, G Elgar, A Orioli, M Tanguy, A Giess… - Nature, 2022 - nature.com
DNA transfer from cytoplasmic organelles to the cell nucleus is a legacy of the
endosymbiotic event—the majority of nuclear-mitochondrial segments (NUMTs) are thought …