Genome-Wide Association Study of Sepsis Susceptibility in ICU Patients Identifies Arab Founder Loss-of-Function Variant in UBE2L3
Mahboubeh R. Rostami, Ali Ait Hssain, Amal Robay…·Juan L. Rodríguez-Flores
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Cornell UniversityORCID 0000-0001-9250-6583Unclaimed ORCID profile · follow to get notified of new preprints
9 papers
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Mahboubeh R. Rostami, Ali Ait Hssain, Amal Robay…·Juan L. Rodríguez-Flores
Chirag R. Parikh, Rachel A. Glenn, Yufang Shi…·Matthias Stadtfeld
The paper identifies genetic variants that influence DNA methylation stability and imprint deregulation in naive pluripotent stem cells across different mouse strains.
Mahboubeh R. Rostami, Juan L. Rodríguez-Flores, Ali Ait Hssain…·Ronald G. Crystal
The paper assesses genetic risks of inaccurate ICU drug dosing in Qataris by analyzing whole genome sequencing data and identifies population-specific pharmacogenomics variants.
Scott Kulm, Jason G. Mezey, Olivier Elemento
This study benchmarks 26 variations of polygenic risk score models to assess how different assumptions affect disease prediction accuracy using UK Biobank data.
Afrah Shafquat, Ronald G. Crystal, Jason G. Mezey
This paper introduces PheLEx, a Bayesian framework to detect and correct misclassified phenotypes in GWAS, improving recovery of disease loci and identifying new candidate loci in epilepsy and bipolar disorder.
Scott Kulm, Andrew R. Marderstein, Jason G. Mezey, Olivier Elemento
This paper evaluates the clinical impact of polygenic risk scores across 23 diseases using UK Biobank data, showing improved prediction accuracy and actionable risk mitigation strategies.
Andrew R. Marderstein, Manik Uppal, Akanksha Verma…·Olivier Elemento
The paper analyzes bulk RNA-seq data to identify factors influencing immune cell infiltration in human tissues, finding associations with age, sex, and genetic variants.
Monica D. Ramstetter, Sushila A. Shenoy, Thomas D. Dyer…·Amy L. Williams
DRUID improves relative detection by inferring IBD sharing of ungenotyped ancestors, outperforming PADRE in identifying relatives and reducing generational gaps.
Monica D. Ramstetter, Thomas D. Dyer, Donna M. Lehman…·Amy L. Williams
This study evaluates 12 relatedness inference methods using genome-wide data from 2,485 relatives, finding high accuracy for first and second degree relationships but significant drops for seventh degree relationships.