Rashesh Sanghvi

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.

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.

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.

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

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.

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.

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.

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.

Deep sequencing of 3 cancer cell lines on 2 sequencing platforms

The paper benchmarks a new sequencing platform and develops a somatic calling pipeline using deep sequencing of cancer cell lines on two platforms.