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Clinical Chemistry

The leading international journal of laboratory medicine, Clinical Chemistry features nearly 400 peer-reviewed studies every year that help patients get accurate diagnoses and essential care, as well as recurring features like clinical case studies, perspectives, podcasts, and Q&A articles.
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Expanding access to noninvasive prenatal diagnosis

Researchers developed a modified relative haplotype dosage analysis pipeline to correctly predict the genotype in fetuses from consanguineous families, potentially expanding access to noninvasive prenatal diagnosis services for these families.

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MSI assay identifies PMS2 pathogenic variants

Researchers confirmed the accuracy of the highly sensitive microsatellite instability (hs-MSI) assay for PMS2 analysis — the most frequently mutated gene in constitutional mismatch repair deficiency — potentially personalizing childhood-onset cancer risk determination.

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