Genetic Processes Commons^™

Evaluating The Accuracy Of Face2gene Phenotyping Tools In South African Children With Neurodevelopmental Disorders, Hendrike Mcdonald, Zandrè Bruwer, Michal Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Charles Newton, Amina Abubakar

Institute for Human Development, East Africa

Objectives Computational phenotyping tools, like Face2Gene, are increasingly used to support genetic diagnosis by analysing facial features. These tools perform well in Global North populations but are less accurate in other groups. This study aimed to assess the performance of Face2Gene’s DeepGestalt, FeatureMatcher, and D-Score in South African children with neurodevelopmental disorders (NDDs) and unaffected controls.

Methods Facial photographs of 301 children from the NeuroDev South Africa study were analysed including 36 children with NDDs with a confirmed molecular diagnosis, 176 with NDDs without a confirmed molecular diagnosis, and 89 controls. Diagnostic accuracy of DeepGestalt and FeatureMatcher was assessed by …

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni Boltz, Benjamin Chu, Matthew Defelice, Calwing Liao, Julia Sealock, Robert Ye, Jacqueline Goldstein, Lerato Majara, Jack Fu, Lukoye Atwoli

Internal Medicine, East Africa

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Low Serum Alpha 1 Antitrypsin In Duodenal Ulcer--A Family Study, Anjum Shahid, Sarwar J, Zuberi Mohammad A, Waqar,Huma Qureshi Waqar,Huma Qureshi Waqar,Huma Qureshi, Anwar Ali Siddiqui, Taranum Sultana

Department of Biological & Biomedical Sciences

No abstract provided.