Mitchell J. Machiela

This study identifies RAPGEF1 as a gene modulating melanoma and nevi risk through RAS activation, using fine-mapping, expression data, and functional assays.

This study identifies 14 susceptibility loci for Ewing sarcoma through a genome-wide association meta-analysis, revealing genetic interactions with somatic EWSR1::FLI1 fusions.

LDscore provides a cloud-based, Python 3 web platform for LDSC analysis, improving accessibility and scalability for heritability and genetic correlation studies.

The paper identifies key transcription factors and their target proteins in renal cell carcinoma using multi-omic integration of ChIP-seq and GWAS data.

The paper identifies novel non-coding driver mutations in clonal hematopoiesis using whole genome sequences from the UK Biobank and links them to common diseases.

The paper develops and validates multi-ancestry polygenic risk scores for LUAD in East Asian never-smokers, showing improved risk prediction compared to East Asian-only models.

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

The paper presents diploid genome assemblies for two human fibroblast cell lines, enabling clone-specific variant calling, improved read mapping, and accurate phasing.

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 identifies candidate causal variants and genes at melanoma risk loci using capture-HiC and integrates multi-omics data to prioritize cis-regulatory interactions.

This study identifies VNTR6-1 and rs10069690 as regulators of TERT splicing and expression, influencing cancer risk and telomere dynamics through altered telomerase isoform ratios.

FORGEdb integrates genomic annotations to prioritize functional variants and target genes for complex diseases.

This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

The paper identifies shared genetic architecture across different types of clonal hematopoiesis and finds that overlapping mutations increase hematological malignancy risk.

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

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 investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.