AIMC Topic: Polymorphism, Single Nucleotide

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Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Nature communications
The adoption of whole genome sequencing (WGS) in clinical oncology is challenged by low data quality and increased artifacts in standard-of-care formalin-fixed paraffin-embedded (FFPE) samples. Analysis of 56 fresh frozen (FF) and FFPE matched pairs ...

Non-coding genetic variants underlying higher prostate cancer risk in men of African ancestry.

Nature communications
Prostate cancer (PrCa) incidence and severity vary across ancestries; men of African ancestry (AA) are more likely to be diagnosed and die from PrCa than those of European ancestry (EA). Current polygenic risk scores, even from multi-ancestry GWAS, d...

Regulators of homologous recombination deficiency identified by machine learning using somatic multi-omics data.

Life science alliance
Homologous recombination deficiency (HRD) is a critical biomarker for guiding targeted therapies, yet the full range of somatic alterations driving HRD across cancers remains incompletely characterized. Here, we present a tumor-agnostic machine learn...

Machine learning for genomic prediction of growth traits in aquaculture: a case study of the Australasian snapper (Chrysophrys auratus).

BMC bioinformatics
BACKGROUND: Chrysophrys auratus (family: Sparidae), commonly known as Australasian snapper, is a warm-water species being developed as a candidate for aquaculture in New Zealand. Genomic selection of elite snapper offers significant potential to acce...

Machine learning models incorporating genotype and ancestry improve severe asthma risk prediction.

Scientific reports
This study proposes a novel machine learning (ML)-based stacking technique that integrates Single Nucleotide Polymorphisms (SNPs) and inferred local ancestry (LA) to improve predictive accuracy in clinical outcomes. Asthma, particularly severe asthma...

Multiomic insights into sucrose accumulation in sugarcane.

Plant molecular biology
Sugarcane holds significant economic importance in sugar and biofuel production. Despite extensive research, understanding highly quantitative traits remains challenging due to its complex genomic landscape. We conducted a multiomic investigation to ...

Comparative evaluation of SNP-weighted, Bayesian, and machine learning models for genomic prediction in Holstein cattle.

BMC genomics
BACKGROUND: Genomic Best Linear Unbiased Prediction (GBLUP) assumes that all SNPs contribute equally to genetic variance, including those with minimal impact, limiting its accuracy. A major challenge in animal breeding is to develop more scientific m...

The Genetic Architecture of the Human Corpus Callosum and its Subregions.

Nature communications
The corpus callosum (CC) is the largest set of white matter fibers connecting the two hemispheres of the brain. In humans, it is essential for coordinating sensorimotor responses and performing associative or executive functions. Identifying which ge...