AIMC Topic: Genetic Variation

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ARIADNA: machine learning method for ancient DNA variant discovery.

DNA research : an international journal for rapid publication of reports on genes and genomes
Ancient DNA (aDNA) studies often rely on standard methods of mutation calling, optimized for high-quality contemporary DNA but not for excessive contamination, time- or environment-related damage of aDNA. In the absence of validated datasets and desp...

Machine learning annotation of human branchpoints.

Bioinformatics (Oxford, England)
MOTIVATION: The branchpoint element is required for the first lariat-forming reaction in splicing. However current catalogues of human branchpoints remain incomplete due to the difficulty in experimentally identifying these splicing elements. To addr...

Gramene 2018: unifying comparative genomics and pathway resources for plant research.

Nucleic acids research
Gramene (http://www.gramene.org) is a knowledgebase for comparative functional analysis in major crops and model plant species. The current release, #54, includes over 1.7 million genes from 44 reference genomes, most of which were organized into 62,...

Computer-Aided Diagnosis of Lung Nodules in Computed Tomography by Using Phylogenetic Diversity, Genetic Algorithm, and SVM.

Journal of digital imaging
Lung cancer is pointed as the major cause of death among patients with cancer throughout the world. This work is intended to develop a methodology for diagnosis of lung nodules using images from the Image Database Consortium and Image Database Resour...

Impact of Clinical Parameters in the Intrahost Evolution of HIV-1 Subtype B in Pediatric Patients: A Machine Learning Approach.

Genome biology and evolution
Determining the factors modulating the genetic diversity of HIV-1 populations is essential to understand viral evolution. This study analyzes the relative importance of clinical factors in the intrahost HIV-1 subtype B (HIV-1B) evolution and in the f...

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.

Nature genetics
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of inherited and somatic variants of all types. CIViC is committed to open-s...