AIMC Topic: Genetic Association Studies

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Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes.

Blood
Morphologic interpretation is the standard in diagnosing myelodysplastic syndrome (MDS), but it has limitations, such as varying reliability in pathologic evaluation and lack of integration with genetic data. Somatic events shape morphologic features...

Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.

American journal of human genetics
Access to large-scale genomics datasets has increased the utility of hypothesis-free genome-wide analyses. However, gene signals are often insufficiently powered to reach experiment-wide significance, triggering a process of laborious triaging of gen...

Multi-dimensional machine learning approaches for fruit shape phenotyping in strawberry.

GigaScience
BACKGROUND: Shape is a critical element of the visual appeal of strawberry fruit and is influenced by both genetic and non-genetic determinants. Current fruit phenotyping approaches for external characteristics in strawberry often rely on the human e...

ES-MDA: Enhanced Similarity-based MiRNA-Disease Association.

Current protein & peptide science
Accumulating evidence demonstrate that miRNAs can be treated as critical biomarkers in various complex human diseases. Thus, the identifications on potential miRNA-disease associations have become a hotpot for providing better understanding of diseas...

EHAI: Enhanced Human Microbe-Disease Association Identification.

Current protein & peptide science
Recently, an increasing number of biological and clinical reports have demonstrated that imbalance of microbial community has the ability to play important roles among several complex diseases concerning human health. Having a good knowledge of disco...

High-throughput phenotyping with deep learning gives insight into the genetic architecture of flowering time in wheat.

GigaScience
BACKGROUND: Measurement of plant traits with precision and speed on large populations has emerged as a critical bottleneck in connecting genotype to phenotype in genetics and breeding. This bottleneck limits advancements in understanding plant genome...

EWAS Atlas: a curated knowledgebase of epigenome-wide association studies.

Nucleic acids research
Epigenome-Wide Association Study (EWAS) has become increasingly significant in identifying the associations between epigenetic variations and different biological traits. In this study, we develop EWAS Atlas (http://bigd.big.ac.cn/ewas), a curated kn...

Automatic Human-like Mining and Constructing Reliable Genetic Association Database with Deep Reinforcement Learning.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
The increasing amount of scientific literature in biological and biomedical science research has created a challenge in continuous and reliable curation of the latest knowledge discovered, and automatic biomedical text-mining has been one of the answ...

Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.

Database : the journal of biological databases and curation
Gene-phenotype associations play an important role in understanding the disease mechanisms which is a requirement for treatment development. A portion of gene-phenotype associations are observed mainly experimentally and made publicly available throu...