Ronen E. Mukamel

The paper identifies 43,617 mosaic chromosomal alterations in blood from 484,081 UK Biobank participants, revealing genomic hotspots and associations with age-related clonal expansions and genetic pathways.

The paper identifies 11 human genetic loci associated with oral microbiome composition and host-microbial interactions linked to tooth decay.

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

The paper identifies protein-altering structural variants in UK Biobank data and finds associations with various quantitative traits, including hypertension and type 2 diabetes risk.

The paper identifies non-coding VNTRs associated with glaucoma and colorectal cancer risk using UK Biobank data and statistical imputation.

This paper develops a computational method to detect rare CNVs in UK Biobank data, identifies 269 CNV-trait associations, and highlights novel gene-trait relationships.

The paper analyzes recessive Mendelian disease variants in UK Biobank to find mitigated phenotypes in heterozygous carriers, identifying associations with quantitative and disease traits.

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

The paper estimates VNTR lengths from whole-exome sequencing data and identifies associations between VNTRs and human phenotypes, finding strong effects on traits like height and lipoprotein(a).

The paper uses whole-exome imputation in UK Biobank to identify rare coding variant associations and fine-mapping results for 54 traits, finding 1,189 significant associations involving 675 novel variants.

The paper investigates the role of mosaic copy number variants (mCNVs) in autism spectrum disorder (ASD) by analyzing genetic data from ASD probands and unaffected siblings, finding a significant association between large mCNVs and ASD risk.