Applications of artificial intelligence in clinical laboratory genomics

S Aradhya, FM Facio, H Metz, T Manders… - American Journal of …, 2023 - Wiley Online Library
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 …

Deep learning-based facial image analysis in medical research: a systematic review protocol

Z Su, B Liang, F Shi, J Gelfond, S Šegalo, J Wang… - BMJ open, 2021 - bmjopen.bmj.com
Introduction Deep learning techniques are gaining momentum in medical research.
Evidence shows that deep learning has advantages over humans in image identification …

[HTML][HTML] Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study

JT Pantel, N Hajjir, M Danyel, J Elsner… - Journal of medical …, 2020 - jmir.org
Background Collectively, an estimated 5% of the population have a genetic disease. Many
of them feature characteristics that can be detected by facial phenotyping. Face2Gene …

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

AJS Chan, W Engchuan, MS Reuter, Z Wang… - Nature …, 2022 - nature.com
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the
prediction of developmental outcomes. Based on minor physical and major congenital …

Actionable and incidental neuroradiological findings in twins with neurodevelopmental disorders

L Myers, ML Ho, E Cauvet, K Lundin, T Carlsson… - Scientific Reports, 2020 - nature.com
While previous research has investigated neuroradiological findings in autism spectrum
disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), the entire range of …

[PDF][PDF] Clinical decision making in dysmorphology-emerging role of artificial intelligence

N Mahwish, BA Saherawala, M Jhancy - British Journal of Healthcare …, 2022 - rakmhsu.ac.ae
The human genome codes for more than 22,000 genes, many of which have been
implicated in human diseases. These genetic diseases are often associated with …

[PDF][PDF] Integration of Artificial Intelligence in English Teaching

MAM Loor, DMA Solorzano… - Journal of Cleaner …, 2024 - biblioteca.ciencialatina.org
The integration of Artificial Intelligence (AI) into the realm of education, particularly in the
teaching of English, marks a transformative shift in pedagogical methodologies. AI, by its …

[PDF][PDF] MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER

Y SLEYP - 2022 - lirias.kuleuven.be
With the decreasing costs of NGS, large-scale sequencing studies and subsequent rare
variant association analyses are increasingly used to find novel NDD risk genes. However …

[PDF][PDF] Hyperphosphatasia with Mental Retardation Syndrome in South Africa: Identifying a Recurring

SL Bayley - 2021 - scholar.sun.ac.za
Rare diseases (RDs) may individually be rare, but cumulatively affect up to 6% of the
population. In Africa, research and diagnostics for RDs have not been prioritised. Therefore …

[PDF][PDF] Deep Learning-Based Facial Image Analysis in Medical Research: A Systematic Review Protocol

B Liang, P Union, F Shi, SUI Intelligence, J Gelfond - 2020 - scienceopen.com
Introduction: Deep learning techniques are gaining momentum in medical research.
Evidence shows that deep learning has advantages over humans in image identification …