American journal of medical genetics. Part A
Jan 2, 2024
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...
American journal of medical genetics. Part A
Dec 8, 2023
PURPOSE: The precision medicine era has seen increased utilization of artificial intelligence (AI) in the field of genetics. We sought to explore the ways that genetic counselors (GCs) currently use the publicly accessible AI tool Chat Generative Pre...
American journal of medical genetics. Part A
Dec 9, 2022
The field of clinical genetics and genomics continues to evolve. In the past few decades, milestones like the initial sequencing of the human genome, dramatic changes in sequencing technologies, and the introduction of artificial intelligence, have u...
American journal of medical genetics. Part A
Jul 21, 2021
Down syndrome (DS) is typically recognizable in those who present with multiple dysmorphism, especially in regard to facial phenotypes. However, as the presentation of DS in neonates is less obvious, a phenotype-based presumptive diagnosis is more ch...
American journal of medical genetics. Part A
Jun 11, 2020
Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally-inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differe...