Saud H. AlDubayan

Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers

The paper identifies polygenic risk factors and rare variants in unexplained familial cancers using whole genome sequencing and family history data.

Simulation and empirical evaluation of biologically-informed neural network performance

The paper evaluates how dataset characteristics affect biologically-informed neural network performance using simulations and empirical testing with prostate cancer data.

Rare germline structural variants increase risk for pediatric solid tumors

This study identifies rare germline structural variants as risk factors for pediatric solid tumors, particularly neuroblastoma, by analyzing genome sequencing data from affected children and controls.

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma

This study identifies germline rare variants associated with clear and non-clear cell RCC, accounting for population stratification, and finds distinct risk patterns and somatic associations.

Low-pass Whole Genome Imputation Enables the Characterization of Polygenic Breast Cancer Risk in the Indigenous Arab Population

This study uses low-pass whole genome sequencing to impute variants and construct polygenic risk scores for breast cancer in an underrepresented Arab population, finding associations with family history and age of presentation.

Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genes

This study identifies inherited pathogenic variants in DNA damage repair genes as a distinct germline risk factor for Ewing sarcoma, with FANCC showing significant enrichment.

Biologically informed deep neural network for prostate cancer classification and discovery

This paper introduces a biologically informed deep learning model for prostate cancer classification and identifies molecular drivers of treatment resistance.

Germline features associated with immune infiltration in solid tumors

The paper identifies germline genetic features associated with immune infiltration in solid tumors using TCGA data and develops a framework for studying inherited factors influencing immune microenvironment.

Inherited DNA Repair Defects in Colorectal Cancer

The paper identifies ATM and PALB2 as CRC risk genes through germline mutation analysis and highlights homologous recombination deficiency in CRC tumors.