Raheleh Rahbari

Germline removal reprograms somatic genome maintenance towards faster, energy-efficient, high-fidelity DNA defence and repair

This study shows that removing the germline in zebrafish reprograms somatic DNA repair and stress responses, favoring high-fidelity mechanisms and altering gene expression patterns across multiple organs.

Mutation timing, accumulation and selection in the male germline shape inheritance risk for developmental disorders

The paper investigates how mutation timing, accumulation, and selection in the male germline influence the risk of developmental disorders through de novo mutations.

A comprehensive atlas of somatic mutation rates and mutational signatures in normal human cells

The paper reports mutation rates and mutational signatures across 53 normal human cell types, revealing variation in mutation accumulation and identifying known and unknown mutational processes.

Multi-scale modeling of human tissues from spatial transcriptomics with TERRA

TERRA is a foundation model for spatial transcriptomics that predicts tissue behavior under perturbation and identifies multi-scale biological insights across tissues.

Using somatic data to aid germline clinical variant interpretation in developmental disorders

This paper uses somatic mutation data to improve the classification of germline variants in developmental disorders by identifying genes where somatic and germline mechanisms are concordant.

Landscape of parental postzygotic mutations in >11,000 rare disease trios

The paper identifies 1,015 high-confidence postzygotic mutations in 12,015 parent-offspring trios, showing they contribute to clinical phenotypes and can be detected from standard sequencing data.

Hotspots of human mutation point to clonal expansions in spermatogonia

The paper identifies genes with hypermutable de novo mutations as potential drivers of clonal expansions in spermatogonia, highlighting their impact on mutation rates and disease associations.

Sperm sequencing reveals extensive positive selection in the male germline

This study uses sperm sequencing to show that positive selection in the male germline leads to a higher risk of disease-causing mutations in offspring.

The long-term effects of chemotherapy on normal blood cells

This study examines the long-term effects of chemotherapy on normal blood cells by analyzing mutation burdens and cell population structure in treated individuals.

Somatic mutation and selection at epidemiological scale

The paper introduces a high-accuracy sequencing method to detect somatic mutations in tissues, revealing extensive selection and driver mutations in oral epithelium and blood samples.

Insights into non-crossover recombination from long-read sperm sequencing

The paper uses long-read sperm sequencing to analyze non-crossover recombination events, finding variation in recombination rates and distinct mechanisms for non-crossover gene conversions.

The impact of ancestral, environmental and genetic influences on germline de novo mutation rates and spectra

This study examines how ancestry and environmental factors influence de novo mutation rates and spectra in a large whole-genome sequenced cohort, finding ancestry-related effects and a link between tobacco smoke exposure and increased mutation rates.

Deciphering the role of germline complex de novo structural variations in rare disorders

This study identifies de novo structural variants in a large cohort of rare disease patients, highlighting their prevalence and potential pathogenicity.

A naturally occurring variant of MBD4 causes maternal germline hypermutation in primates

This study identifies a naturally occurring MBD4 variant in rhesus macaques that causes maternal germline hypermutation, leading to increased de novo mutations in offspring.

Accurate de novo detection of somatic mutations in high-throughput single-cell profiling data sets

SComatic detects somatic mutations in single-cell RNA-seq and ATAC-seq data without bulk DNA sequencing, achieving higher precision than existing methods.

The mutational landscape of human somatic and germline cells

This study compares mutational landscapes in somatic and germline cells across 29 anatomical structures, identifying key mutational signatures and their contributions to different cell types.

Genetic and chemotherapeutic causes of germline hypermutation

The paper identifies genetic and chemotherapeutic causes of germline hypermutation by analyzing genome-wide sequences of families with rare genetic diseases.

Elevated somatic mutation burdens in normal human cells due to defective DNA polymerases

The paper shows that germline mutations in POLE or POLD1 lead to elevated mutation burdens in normal human cells and tissues, but do not cause premature aging or other phenotypic features beyond early-onset cancer.

Somatic mutations reveal widespread mosaicism and mutagenesis in human placentas

This study uses whole genome sequencing of placental biopsies to show that human placentas exhibit clonal expansions, copy number changes, and developmental bottlenecks similar to childhood cancer.

Extensive phylogenies of human development reveal variable embryonic patterns

The paper reconstructs phylogenies of human development using whole-genome sequencing to show variable embryonic patterns and lineage asymmetries across individuals and tissues.

Striking differences in patterns of germline mutation between mice and humans

The paper compares germline mutation rates and spectra between mice and humans using whole genome sequencing of multi-sibling pedigrees, finding significant differences including a reduced mutation rate in human spermatogonial stem cells.

LINE-1 retrotransposition impacts the genome of human pre implantation embryos and extraembryonic tissues

This study shows LINE-1 retrotransposition occurs in human pre-implantation embryos and extraembryonic tissues, impacting gene expression and potentially contributing to genomic variation.

Detection of structural mosaicism from targeted and whole-genome sequencing data

The paper introduces MrMosaic, a method to detect structural mosaicism using sequencing data, finding that blood-only testing misses over 50% of mosaic rearrangements.

A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals

The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.