Mauro Santibanez‐Koref

The influence of marker number and sequencing depth on the ability to identify mismatch repair deficient tumours.

The paper investigates how sequencing depth and marker number affect detecting mismatch repair deficiency in colorectal tumors using artificial neural networks.

Large-scale benchmarking of circRNA detection tools reveals large differences in sensitivity but not in precision

The paper benchmarks 16 circRNA detection tools across three human cell types, finding large differences in sensitivity but consistent precision, and recommends tool combinations for improved detection.

Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk

The paper investigates mitonuclear SNP combinations in Parkinson's disease cohorts and identifies five significant interactions associated with disease risk.

A de novo paradigm for male infertility

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours

The paper introduces a panel of short mononucleotide repeats for MSI testing, showing high concordance with traditional methods and potential for scalable, cost-effective tumor classification.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.