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Long Reads Can Make Short Work of Rare Disease Diagnostics

Long Reads Can Make Short Work of Rare Disease Diagnostics
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POT1 gene mutation predisposes to glioma and affects survival in a sex-specific manner

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Researchers at Baylor College of Medicine and collaborators at other institutions have discovered that POT1, a gene known to be associated with risk of glioma, the most common type of malignant brain tumor, mediates its effects in a sex-specific manner. Researchers found that female mice with glioma that lacked the gene survived less than males. This led them to investigate human glioma cells, where they found that low POT1 expression correlated with reduced survival in females.
Published in the journal
Cancer Research, the study also shows that, compared to males , female tumors had reduced expression of immune signatures and increased expression of cell replication markers, suggesting that the immune response and tumor cell proliferation seemed to be involved in favoring tumor growth. ....

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