AIMC Topic: Whole Genome Sequencing

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Evaluation of parameters affecting performance and reliability of machine learning-based antibiotic susceptibility testing from whole genome sequencing data.

PLoS computational biology
Prediction of antibiotic resistance phenotypes from whole genome sequencing data by machine learning methods has been proposed as a promising platform for the development of sequence-based diagnostics. However, there has been no systematic evaluation...

Identifying genetic determinants of complex phenotypes from whole genome sequence data.

BMC genomics
BACKGROUND: A critical goal in biology is to relate the phenotype to the genotype, that is, to find the genetic determinants of various traits. However, while simple monofactorial determinants are relatively easy to identify, the underpinnings of com...

NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans.

Genome biology
State-of-the-art methods assessing pathogenic non-coding variants have mostly been characterized on common disease-associated polymorphisms, yet with modest accuracy and strong positional biases. In this study, we curated 737 high-confidence pathogen...

OMeta: an ontology-based, data-driven metadata tracking system.

BMC bioinformatics
BACKGROUND: The development of high-throughput sequencing and analysis has accelerated multi-omics studies of thousands of microbial species, metagenomes, and infectious disease pathogens. Omics studies are enabling genotype-phenotype association stu...

Prognostic models in primary biliary cholangitis.

Journal of autoimmunity
Risk prediction modelling is important to better understand the determinants of the course and outcome of PBC and to inform the risk across the disease continuum in PBC enabling risk-stratified follow-up care and personalised therapy. Current prognos...

The first two mitochondrial genomes from Taeniopterygidae (Insecta: Plecoptera): Structural features and phylogenetic implications.

International journal of biological macromolecules
The complete mitochondrial genomes (mitogenomes) of Taeniopteryx ugola and Doddsia occidentalis (Plecoptera: Taeniopterygidae) were firstly sequenced from the family Taeniopterygidae. The 15,353-bp long mitogenome of T. ugola and the 16,020-bp long m...

Genomic and machine learning approaches to predict antimicrobial resistance in .

Microbiology spectrum
UNLABELLED: is a multidrug-resistant pathogen, which poses a major challenge to clinical management due to its increasing resistance to common antibiotics, such as levofloxacin (LEV) and trimethoprim-sulfamethoxazole (SXT), and poor clinical respons...

Comprehensive Characterization of Somatic Mutation Timing Reveals the Evolutionary Trajectory of Lung Adenocarcinoma in Chinese Patients.

Cancer research
UNLABELLED: Lung adenocarcinoma (LUAD) is a heterogeneous disease with substantial genomic differences between individuals of Chinese and European ancestries. Deciphering the timing of driver mutations may lead to insights into tumor evolution that c...

HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data.

Cancer research
UNLABELLED: Breast and ovarian cancers harboring homologous recombination deficiency (HRD) are sensitive to PARP inhibitors and platinum chemotherapy. Conventionally, detecting HRD involves screening for defects in BRCA1, BRCA2, and other relevant ge...

In-depth analysis of the risk factors for persistent severe acute respiratory syndrome coronavirus 2 infection and construction of predictive models: an exploratory research study.

BMC infectious diseases
BACKGROUND: Persistent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection differs from long coronavirus disease (COVID-19) (acute symptoms ≥ 12 weeks post-clearance). The Omicron BA.5 variant has a shorter median clearance time (1...