Ronen E. Mukamel

Patterns and drivers of 43,617 mosaic chromosomal alterations in blood

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.

Human and bacterial genetic variation shape oral microbiomes and health

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

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants

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

Hidden protein-altering variants influence diverse human phenotypes

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.

Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

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

Influences of rare copy number variation on human complex traits

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.

A spectrum of recessiveness among Mendelian disease variants in UK Biobank

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

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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.

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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).

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

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.

Large mosaic copy number variations confer autism risk

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.