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Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

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Detecting ultralow-frequency mutations by Duplex Sequencing

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Half or more of the somatic mutations in cancers of self-renewing tissues originate prior to tumor initiation

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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

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Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage

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Protecting the mitochondrial powerhouse

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Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers.

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Mutational Signature of Aristolochic Acid Exposure as Revealed by Whole-Exome Sequencing

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Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

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Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

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Primer ID Informs Next-Generation Sequencing Platforms and Reveals Preexisting Drug Resistance Mutations in the HIV-1 Reverse Transcriptase Coding Domain

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Clonal hematopoiesis in human aging and disease

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The landscape of somatic mutation in normal colorectal epithelial cells

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Aging and neurodegeneration are associated with increased mutations in single human neurons

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The mutational landscape of normal human endometrial epithelium

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Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

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Somatic genomic changes in single Alzheimer’s disease neurons

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Integrating cellular senescence with the concept of damage accumulation in aging: Relevance for clearance of senescent cells

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Cancer-associated mutations in endometriosis: shedding light on the pathogenesis and pathophysiology

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Characterization of the germline and somatic mutation profile in familial pancreatic cancer reveals pathogenic germline variants and potentially druggable somatic mutations.

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CEREBRAL CAVERNOUS MALFORMATIONS

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Mosaicism in Traditional Mendelian Diseases

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