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The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Clonal hematopoiesis is associated with low CD4 nadir and increased residual HIV transcriptional activity in virally suppressed individuals with HIV
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Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome