Joshua C. Bis

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

This study examines the long-term temporal stability of 7,288 circulating proteins in older adults over five years, identifying factors like genetic effects and disease stage that influence stability.

The paper introduces the expected polygenic risk score (ePRS) framework to address population stratification in polygenic risk score analysis by modeling ancestral makeup, showing it provides equitable risk quantification across diverse populations.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

The paper identifies plasma proteins associated with clonal hematopoiesis and links them to cardiovascular disease through proteomic and genetic analyses.

This study uses whole-genome sequence data from diverse participants to identify novel genetic loci associated with brain structural volumes, highlighting the importance of diverse cohorts in uncovering genetic architecture.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

This study identifies 67 genetic loci associated with head size, finding strong overlaps with cancer pathways and genes, suggesting shared genetic mechanisms between head growth and cancer risk.

This study uses whole genome sequence data from the ADSP to identify 17 significant variants in five genomic regions associated with Alzheimer's disease.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

The paper analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

This study identifies genetic resilience factors for Alzheimer's disease by constructing polygenic resilience scores that reduce genetic risk penetrance and correlate with polygenic risk scores in unaffected individuals.

This paper constructs a multi-ethnic polygenic risk score for hypertension and shows it is associated with hypertension prevalence, progression, and related clinical outcomes.

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.