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Genetic Testing

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Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.

Human genetics
Chatbots, web-based artificial intelligence tools that simulate human conversation, are increasingly in use to support many areas of genomic medicine. However, patient preferences towards using chatbots across the range of clinical settings are unkno...

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

BMJ open
INTRODUCTION: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients ...

The future of commercial genetic testing.

Current opinion in pediatrics
PURPOSE OF REVIEW: There are thousands of different clinical genetic tests currently available. Genetic testing and its applications continue to change rapidly for multiple reasons. These reasons include technological advances, accruing evidence abou...

Artificial Intelligence-Assisted Diagnostic Cytology and Genomic Testing for Hematologic Disorders.

Cells
Artificial intelligence (AI) is a rapidly evolving field of computer science that involves the development of computational programs that can mimic human intelligence. In particular, machine learning and deep learning models have enabled the identifi...

Noninvasive genetic screening: current advances in artificial intelligence for embryo ploidy prediction.

Fertility and sterility
This review discusses the use of artificial intelligence (AI) algorithms in noninvasive prediction of embryo ploidy status for preimplantation genetic testing in in vitro fertilization procedures. The current gold standard, preimplantation genetic te...

How should the best human embryo in vitro be? Current and future challenges for embryo selection.

Minerva obstetrics and gynecology
In-vitro fertilization (IVF) aims at overcoming the causes of infertility and lead to a healthy live birth. To maximize IVF efficiency, it is critical to identify and transfer the most competent embryo within a cohort produced by a couple during a cy...

Applications of artificial intelligence in clinical laboratory genomics.

American journal of medical genetics. Part C, Seminars in medical genetics
The transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of "big data" in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately ev...

Improved accuracy in colorectal cancer tissue decomposition through refinement of established deep learning solutions.

Scientific reports
Hematoxylin and eosin-stained biopsy slides are regularly available for colorectal cancer patients. These slides are often not used to define objective biomarkers for patient stratification and treatment selection. Standard biomarkers often pertain t...

The neglected emotional drawbacks of the prioritization of embryos to transfer.

Reproductive biomedicine online
In recent years, increasing efforts have been made to develop advanced techniques that could predict the potential of implantation of each single embryo and prioritize the transfer of those at higher chance. The most promising include non-invasive pr...

The ENGAGE study: evaluation of a conversational virtual agent that provides tailored pre-test genetic education to cancer patients.

Journal of cancer survivorship : research and practice
PURPOSE: Novel approaches are needed to ensure all patients with cancer have access to quality genetic education before genetic testing to enable informed treatment decisions. The purpose of this study was to test the use of an artificial intelligenc...