AIMC Topic: Genetic Testing

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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 ...

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...

Using deep learning and electronic health records to detect Noonan syndrome in pediatric patients.

Genetics in medicine : official journal of the American College of Medical Genetics
PURPOSE: The variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition a...

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.

Scientific reports
Genomic variant interpretation is a critical step of the diagnostic procedure, often supported by the application of tools that may predict the damaging impact of each variant or provide a guidelines-based classification. We propose the application o...

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.

Genes
During the last decade, genetic testing has emerged as an important etiological diagnostic tool for Mendelian diseases, including pediatric neurological conditions. A genetic diagnosis has a considerable impact on disease management and treatment; ho...

Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.

Scientific reports
The success of the Saudi Human Genome Program (SHGP), one of the top ten genomic programs worldwide, is highly dependent on the Saudi population embracing the concept of participating in genetic testing. However, genetic data sharing and artificial i...