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Tag: Diagnosis

The Challenges & Considerations of Reporting Somatic Variants in Cancer

Industrial and “omic” scale mutational profiling of solid tumours are possible as a result of massively parallel sequencing technology. However, these clinical genomic testing capabilities have also brought myriad new biological, technical and operational challenges not encountered in monogenic disorder testing. All of this impacts the interpretation and reporting of somatic variants. As a testament to the nascency of this field, the first published consensus guidelines for interpretation of variants in cancer was only released in early 2017.

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Precision Medicine and Companion Diagnostics in Stroke Patients

A stroke is a clinical condition that could benefit greatly from personalized medicine. Strokes remain a leading cause of mortality and morbidity in the United States, affecting over 800,000 adults annually, leaving many with a permanent disability. The current stroke population are approximately 195,000 recurrent strokes, which are often more severe, debilitating, and costly than first-time strokes.

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Immunotherapy for Malignant Mesothelioma

The current field of cancer research is seeing gains in almost every aspect of care, from the foundations of the disease to the development of successful treatment. With increased funding and attention to oncology care, immunotherapy and precision medicine are among the most promising patient-centred areas of current research and translational medicine.

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Software and Systems for Digital Pathology

Presented at the 4th Digital Pathology Congress, these 3 sets of slides on software and systems for digital pathology are available. Feel free to download and share with your colleagues.

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Precision Medicine in Rare Diseases

7% of the population will be affected by a rare disease at some point in their lives. In anticipation of the Precision Medicine & Biomarkers Leaders Summit: USA and in recognition of Rare Disease Day, we have collated some of the top articles on rare diseases and their treatments.

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The Future of Personalised Medicine, Companion Diagnostics & AI

It was a pleasure to welcome back Miro Venturi to the Global Precision & Biomarkers Leaders Summit, our keynote speaker who spoke on the future of personalised medicine and the interplay of diseases, information and technologies. After his presentation, we sat down with him to get more of an insight into his thoughts on the future.

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From Validation to Practice: Transforming Pathology with Aperio Solutions

Pathology Departments today are faced with many challenges in regards to effectively handling their workflow. More pathologists and technologists are retiring, while demand for specialist pathologists is increasing. Hospital laboratories are being forced to consolidate services and are seeking tools that can help them effectively provide more services without impacting on patient treatment.

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Quantitative Image Analysis Guidelines: An Open letter from Liron Pantanowitz

Dear Colleagues,

There has been a steady increase in the adoption of Quantitative Image Analysis (QIA) for diagnostic purposes, especially for breast biomarker testing.

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