Nir Barzilai

This paper introduces BaySeq-Y, a Bayesian method to directly quantify mosaic loss of chromosome Y from sequencing data, showing improved accuracy over existing methods.

This study constructs a polygenic protective score for Alzheimer's disease and finds stronger genetic protection against AD in centenarians compared to non-longevity individuals.

This study identifies two functional IGF-1 coding variants in centenarians that may contribute to exceptional longevity by impairing IGF-1R activity and reducing circulating IGF-1 levels.

This study develops a polygenic score to predict exceptional longevity by modeling pleiotropic genetic variants linked to aging-related traits, showing improved lifespan prediction and identifying potential drug targets.

This study identifies miR-142-3p as a regulator of human longevity by modulating the insulin/IGF-1 signaling pathway in B-cells and mice.

The paper identifies a longevity-associated SMAD3 non-coding variant that impairs a cell-type specific enhancer, reducing inflammation and senescence in endothelial cells and improving healthspan in a mouse model.

The paper analyzes genome-wide data from medieval German Jews to show the Ashkenazi founder event occurred before the 14th century, with genetic heterogeneity not present in modern Ashkenazi Jews.

The paper identifies a SIRT6 variant enriched in centenarians that improves genome stability through enhanced mADPr activity and interaction with Lamin A.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

The paper examines how polygenic risk scores for Alzheimer's disease affect younger APOE4 carriers, finding earlier disease onset associated with higher PRS.

The paper performs exome-wide association studies in large cohorts to identify genetic variants linked to human age, finding new candidates and confirming known ones.

Profiling 2,925 plasma proteins in 4,331 people aged 18-95 reveals non-linear aging: protein waves crest at 34, 60 and 78 years, later waves overlapping disease proteomes.

This paper evaluates the potential benefits of using polygenic scores to select embryos for traits like height and cognitive function, finding limited gains with current predictors.

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

The paper sequenced a population-specific reference panel at high depth to improve imputation accuracy and variant filtering in the Ashkenazi Jewish population.