AIMC Topic: Genetic Testing

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Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.

American journal of medical genetics. Part A
Data science methodologies can be utilized to ascertain and analyze clinical genetic data that is often unstructured and rarely used outside of patient encounters. Genetic variants from all genetic testing resulting to a large pediatric healthcare sy...

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...

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...

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...

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...

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...

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...

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...

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...

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 ...