AIMC Topic: Polymorphism, Single Nucleotide

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Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment.

Nature medicine Jun 14, 2024
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and therapeutic response monitoring. To overcome the sparsity of ctDNA fragments in low tumor fraction (T...
Neoplasm, Residual Circulating Tumor DNA DNA Copy Number Variations Whole Genome Sequencing Tumor Burden Lung Neoplasms Polymorphism, Single Nucleotide Humans Colorectal Neoplasms Machine Learning Biomarkers, Tumor Neoplasms
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Artificial intelligence enables unified analysis of historical and landscape influences on genetic diversity.

Molecular phylogenetics and evolution Jun 12, 2024
While genetic variation in any species is potentially shaped by a range of processes, phylogeography and landscape genetics are largely concerned with inferring how environmental conditions and landscape features impact neutral intraspecific diversit...
Phylogeography Genetics, Population Models, Genetic Genetic Variation Anura Artificial Intelligence Animals Brazil Polymorphism, Single Nucleotide
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Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.

Nature genetics Jun 11, 2024
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in electronic health records captures disea...
Humans Genetic Predisposition to Disease Polymorphism, Single Nucleotide Coronary Artery Disease Machine Learning Female Genome-Wide Association Study Exome Genetic Variation Exome Sequencing
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Unraveling the genetic and molecular landscape of sepsis and acute kidney injury: A comprehensive GWAS and machine learning approach.

International immunopharmacology Jun 8, 2024
OBJECTIVES: This study aimed to explore the underlying mechanisms of sepsis and acute kidney injury (AKI), including sepsis-associated AKI (SA-AKI), a frequent complication in critically ill sepsis patients.
Prognosis Acute Kidney Injury Disease Models, Animal Animals Mice, Inbred C57BL Male Sepsis Mice Genome-Wide Association Study Genetic Predisposition to Disease Humans Polymorphism, Single Nucleotide Machine Learning
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Prediction of adverse drug reactions due to genetic predisposition using deep neural networks.

Molecular informatics Jun 8, 2024
Drug development is a long and costly process, often limited by the toxicity and adverse drug reactions (ADRs) caused by drug candidates. Even on the market, some drugs can cause strong ADRs that can vary depending on an individual polymorphism. The ...
Humans Genetic Predisposition to Disease Polymorphism, Single Nucleotide Drug-Related Side Effects and Adverse Reactions Neural Networks, Computer Deep Learning Genome-Wide Association Study
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Integrating Bioinformatics and Machine Learning for Genomic Prediction in Chickens.

Genes May 26, 2024
Genomic prediction plays an increasingly important role in modern animal breeding, with predictive accuracy being a crucial aspect. The classical linear mixed model is gradually unable to accommodate the growing number of target traits and the increa...
Polymorphism, Single Nucleotide Genotype Computational Biology Animals Genome-Wide Association Study Genomics Machine Learning Phenotype Female Chickens Breeding Quantitative Trait Loci
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DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.

HGG advances May 24, 2024
Orofacial clefts (OFCs) are among the most common human congenital birth defects. Previous multiethnic studies have identified dozens of associated loci for both cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP). Although seve...
Humans Embryonic Development Neural Networks, Computer Cleft Lip Deep Learning Polymorphism, Single Nucleotide Cleft Palate Epigenomics
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Stacked neural network for predicting polygenic risk score.

Scientific reports May 21, 2024
In recent years, the utility of polygenic risk scores (PRS) in forecasting disease susceptibility from genome-wide association studies (GWAS) results has been widely recognised. Yet, these models face limitations due to overfitting and the potential ...
Humans Neural Networks, Computer Breast Neoplasms Genetic Risk Score Genome-Wide Association Study Polymorphism, Single Nucleotide Prostatic Neoplasms
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Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.

BMC genomics May 14, 2024
BACKGROUND: The absence of heterozygosity (AOH) is a kind of genomic change characterized by a long contiguous region of homozygous alleles in a chromosome, which may cause human genetic disorders. However, no method of low-pass whole genome sequenci...
Loss of Heterozygosity Polymorphism, Single Nucleotide Whole Genome Sequencing Genome, Human Humans Neural Networks, Computer
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Predicting hotspots for disease-causing single nucleotide variants using sequences-based coevolution, network analysis, and machine learning.

PloS one May 14, 2024
To enable personalized medicine, it is important yet highly challenging to accurately predict disease-causing mutations in target proteins at high throughput. Previous computational methods have been developed using evolutionary information in combin...
Evolution, Molecular Proteins Mutation Algorithms Humans Polymorphism, Single Nucleotide Machine Learning Computational Biology
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