Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
The FDNA team is gearing up for ACMG meeting 2022 and we’re excited to share with you new developments and updates to Face2Gene since last year’s conference! Interested in learning more about all of the new functionalities in Face2Gene? Visit us at booth #509 or contact us to schedule a meeting. While at the conference, […]
By Dr. Karen Gripp, Chief Medical Officer at FDNA Next-generation phenotyping (NGP) is characterized by the use of computer learning tools to assess a patient’s presentation (phenotype). For precision medicine to reach its full potential, it requires the combination of NGP with the large data sets derived from next-generation sequencing (NGS). Before new technologies can […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> Dr. Christine Stanley, Head of Clinical Laboratory for WuXi NextCODE, US and CLIA medical director for Q&A Diagnostics, discusses next-generation phenotyping for improved variant interpretation through integration of Face2Gene LABS with WuXi NextCODE’s variant interpretation […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> HISTORY Since the 1960s, the field of medical genetics has been evolving rapidly with regard to phenotype delineation and analysis. A disease phenotype requires a multi-faceted analysis. Besides defining the phenotype with diagnostic criteria, […]
Note: This talk was presented at the 2018 ACMG annual meeting. The video can be seen below, or at this link> Starting in 1996, a select few clinicians began identifying a small group of patients with similar phenotypic features: Down-syndrome-like facial features, short stature, intellectual disability, cataracts and sensorineural hearing loss. Among these clinicians was […]