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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles
To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify...
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Saturation genome editing of BAP1 functionally classifies somatic and germline variants
Many variants that we inherit from our parents or acquire de novo or somatically are rare, limiting the precision with which we can associate them...
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Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer
Mismatch repair (MMR)-deficient cancer evolves through the stepwise erosion of coding homopolymers in target genes. Curiously, the MMR genes MutS...
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Map** spatially resolved transcriptomes in human and mouse pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease with poor prognosis and limited treatment options. Efforts to identify effective...
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Mitochondrial genetics through the lens of single-cell multi-omics
Mitochondria carry their own genetic information encoding for a subset of protein-coding genes and translational machinery essential for cellular...
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Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women,...
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Revealing gene function with statistical inference at single-cell resolution
Single-cell and spatial molecular profiling assays have shown large gains in sensitivity, resolution and throughput. Applying these technologies to...
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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat...
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Sequencing-based analysis of microbiomes
Microbiomes occupy a range of niches and, in addition to having diverse compositions, they have varied functional roles that have an impact on...
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Methods and applications of genome-wide profiling of DNA damage and rare mutations
DNA damage is a threat to genome integrity and can be a cause of many human diseases, owing to either changes in the chemical structure of DNA or...
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