Machine learning meets omics: applications and perspectives

R Li, L Li, Y Xu, J Yang - Briefings in Bioinformatics, 2022 - academic.oup.com
The innovation of biotechnologies has allowed the accumulation of omics data at an
alarming rate, thus introducing the era of 'big data'. Extracting inherent valuable knowledge …

Computational methods for analysing multiscale 3D genome organization

Y Zhang, L Boninsegna, M Yang, T Misteli… - Nature Reviews …, 2024 - nature.com
Recent progress in whole-genome mapping and imaging technologies has enabled the
characterization of the spatial organization and folding of the genome in the nucleus. In …

Genome-wide enhancer maps link risk variants to disease genes

J Nasser, DT Bergman, CP Fulco, P Guckelberger… - Nature, 2021 - nature.com
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …

Activity-by-contact model of enhancer–promoter regulation from thousands of CRISPR perturbations

CP Fulco, J Nasser, TR Jones, G Munson… - Nature …, 2019 - nature.com
Enhancer elements in the human genome control how genes are expressed in specific cell
types and harbor thousands of genetic variants that influence risk for common diseases …

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

V Steinthorsdottir, R McGinnis, NO Williams… - Nature …, 2020 - nature.com
Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal
health. In genome-wide association meta-analysis of European and Central Asian mothers …

An atlas of dynamic chromatin landscapes in mouse fetal development

DU Gorkin, I Barozzi, Y Zhao, Y Zhang, H Huang… - Nature, 2020 - nature.com
Abstract The Encyclopedia of DNA Elements (ENCODE) project has established a genomic
resource for mammalian development, profiling a diverse panel of mouse tissues at 8 …

[HTML][HTML] A single cell atlas of human cornea that defines its development, limbal progenitor cells and their interactions with the immune cells

J Collin, R Queen, D Zerti, S Bojic, B Dorgau, N Moyse… - The ocular …, 2021 - Elsevier
Purpose Single cell (sc) analyses of key embryonic, fetal and adult stages were performed to
generate a comprehensive single cell atlas of all the corneal and adjacent conjunctival cell …

Generation and characterization of stable pig pregastrulation epiblast stem cell lines

M Zhi, J Zhang, Q Tang, D Yu, S Gao, D Gao, P Liu… - Cell Research, 2022 - nature.com
Pig epiblast-derived pluripotent stem cells are considered to have great potential and broad
prospects for human therapeutic model development and livestock breeding. Despite …

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

U Styrkarsdottir, SH Lund, G Thorleifsson, F Zink… - Nature …, 2018 - nature.com
Osteoarthritis has a highly negative impact on quality of life because of the associated pain
and loss of joint function. Here we describe the largest meta-analysis so far of osteoarthritis …

SEdb: a comprehensive human super-enhancer database

Y Jiang, F Qian, X Bai, Y Liu, Q Wang, B Ai… - Nucleic acids …, 2019 - academic.oup.com
Super-enhancers are important for controlling and defining the expression of cell-specific
genes. With research on human disease and biological processes, human H3K27ac ChIP …