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Stochastic semi-supervised learning to prioritise genes from high-throughput genomic screens

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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Association of ecNOS gene polymorphisms with end stage renal diseases

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

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Multiobjective evolutionary algorithms to identify highly autocorrelated areas: the case of spatial distribution in financially compromised farms

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Aberrant Regulation of DNA Methylation in Amyotrophic Lateral Sclerosis: A New Target of Disease Mechanisms

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Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

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Central role of dysregulation of TGF-β/Smad in CKD progression and potential targets of its treatment

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Machine learning for integrating data in biology and medicine: Principles, practice, and opportunities

inferredcites →https://doi.org/10.1016/j.mcn.2014.06.008openalex-snapshot

The histone lysine demethylase Kdm6b is required for activity-dependent preconditioning of hippocampal neuronal survival

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A bagging SVM to learn from positive and unlabeled examples

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Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

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Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

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Association of ecNOS gene polymorphisms with end stage renal diseases

inferredcites →https://doi.org/10.1038/hgv.2017.52openalex-snapshot

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

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Ankyrin-G isoform imbalance and interneuronopathy link epilepsy and bipolar disorder

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Analysis of protein-coding genetic variation in 60,706 humans

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The Genotype-Tissue Expression (GTEx) project

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A scored human protein–protein interaction network to catalyze genomic interpretation

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Integrative omics for health and disease

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Methods of integrating data to uncover genotype–phenotype interactions

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Calcium channel voltage-dependent N type-α 1B subunit (CACNA1B; CaV2.2); collapsin response mediator protein-2 (DPYSL2; CRMP-2)

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Overlapping roles and asymmetrical cross-regulation of the USF proteins in mice

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Changes in the Spinal Cord Proteome of an Amyotrophic Lateral Sclerosis Murine Model Determined by Differential In-gel Electrophoresis

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MultisystemicSYNE1ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders

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Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling

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The Voltage-Gated Calcium Channel and Absence Epilepsy

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The Human Phenotype Ontology in 2017

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Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse

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Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium

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MP837LAMA5 VARIANTS IN CHILDHOOD STEROID-RESISTANT NEPHROTIC SYNDROME: CANDIDATE GENE MUTATIONS OR INCIDENTAL FINDINGS?

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Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

inferredcites →https://doi.org/10.1101/gr.226589.117openalex-snapshot

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

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NOS3 tagSNPs does not modify the chronic kidney disease progression in autosomal dominant polycystic kidney disease

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Tissue-based map of the human proteome

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Charting the human proteome: Understanding disease using a tissue-based atlas

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

inferredcites →https://doi.org/10.1145/1401890.1401920openalex-snapshot

Learning classifiers from only positive and unlabeled data

inferredcites →https://doi.org/10.1152/ajprenal.00424.2007openalex-snapshot

Nitric oxide deficiency in chronic kidney disease

inferredcites →https://doi.org/10.1159/000475890openalex-snapshot

Targeting the KEAP1-NRF2 System to Prevent Kidney Disease Progression

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

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Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphism and Left Ventricular Function in Early Chronic Kidney Disease

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Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy

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Exome-Based Rare-Variant Analyses in CKD

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Amyotrophic lateral sclerosis, gene deregulation in the anterior horn of the spinal cord and frontal cortex area 8: implications in frontotemporal lobar degeneration

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UMAP: Uniform Manifold Approximation and Projection

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An Evaluation of Two-Step Techniques for Positive-Unlabeled Learning in Text Classification

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1007/978-1-0716-2237-7_4openalex-snapshot

Genome-Wide Association Study Statistical Models: A Review

inferred← citeshttps://doi.org/10.1007/s13311-021-01014-9openalex-snapshot

Machine and Deep Learning in Molecular and Genetic Aspects of Sleep Research

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Prospect and scope of artificial neural network in livestock farming: a review

inferred← citeshttps://doi.org/10.1093/bib/bbaa263openalex-snapshot

Revisiting genome-wide association studies from statistical modelling to machine learning

inferred← citeshttps://doi.org/10.1101/2022.04.15.22273922openalex-snapshot

Linking Genotype to Phenotype: Further Exploration of Mutations in SARS-CoV-2 Associated with Mild or Severe Outcomes

inferred← citeshttps://doi.org/10.3389/fgene.2020.00350openalex-snapshot

Reaching the End-Game for GWAS: Machine Learning Approaches for the Prioritization of Complex Disease Loci

inferred← citeshttps://doi.org/10.3389/fpls.2022.883280openalex-snapshot

Exploring Machine Learning Algorithms to Unveil Genomic Regions Associated With Resistance to Southern Root-Knot Nematode in Soybeans

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