Blood functional assay for rapid clinical interpretation of germline TP53 variants

Germline TP53 variants and susceptibility to osteosarcoma.

The etiologic contribution of germline genetic variation to sporadic osteosarcoma is not well understood. Osteosarcoma is a sentinel cancer of Li-Fraumeni syndrome (LFS), in which approximately 70% of families meeting the classic criteria have germline TP53 mutations. We sequenced TP53 exons in 765 osteosarcoma cases. Data were analyzed with χ(2) tests, logistic regression, and Cox proportional...

Letter to BLOOD Acute myeloid leukemia with TP53 germline mutations

Germline sequence variants and prostate-specific antigen interpretation.

Prostate-specific antigen (PSA) is the primary biomarker used to screen for prostate cancer. PSA has limited specificity as a marker, however, and it can be increased in multiple noncancerous conditions [e.g., prostatitis, benign prostatic hyperplasia (BPH)] and after prostatic manipulation (e.g., catheterization) (1, 2 ). There is now emerging evidence that PSA concentrations may also be affec...

Interpretation of Arterial Blood Gas

تجزیه و تحلیل گازهای خون اطلاعات مهمی را در مورد اکسیژناسیون شریانی و تعادل اسید - باز در دست ما قرار می دهد. در ک این داده ها بخشی اساسی از مراقبت پرستاری در اکثر بیماران است. هنوز برای بسیاری از پرستاران، تفسیر نتایج گازهای خون شریانی همانند یک جدول پیچیده بوده و در مواقعی که بررسی تمام نتایج در اسرع وقت مورد نیاز باشد، این مشکل بیشتر نمایان می شود.

Construction of Knowledge-Base for Clinical Interpretation of Genomic Variants

Clinical interpretation for variants of uncertain significance is important to provide appropriate medical treatment. However, enormous effort and specialized knowledge are required to give a clinical interpretation to variants. To reduce the burden, it is necessary to develop an automated estimation system of clinical significance using aggregated knowledge from public databases and literature...