Wiley Special Collection on African Genomics

31 August 2022
7 November 2022

The 2022 American Society for Human Genetics Annual Meeting was held October 24-29, 2022. Featured at this conference was the Presidential Symposium on the field of African Genomics, highlighting the community's latest advancements and promoting the leaders in the field.

 

In recognition of our researchers working within genomics in Africa, Wiley is proud to present this special collection of articles in the field of African Genomics, published in the last three years, from the following journals: American Journal of Medical Genetics Part: A, Annals of Human Genetics, Clinical Genetics, Human Mutation, Journal of Genetic Counseling and Molecular Genetics & Genomic Medicine.

 

Rosemary Ekong, Editor-in-Chief at Annals of Human Genetics, provided her perspective on the field, noting: “Genomics in Africa has gathered pace with an increasing amount of data generated within the African continent. The task is not only ensuring appropriate design of data collection, quality control, and interpretation, but also in determining the clinical applicability of findings”.

 

About the articles included in this collection, Ben Solomon, Co-Editor-in-Chief at American Journal of Medical Genetics had this to say: "Shahida Moosa and colleagues published a fascinating and important paper on genomic approaches to undiagnosed patients in South Africa - this type of work is critical to understanding the broad impact of genomic medicine. Gerrye Mubungu and colleagues show the importance of assessing major and minor anomalies through their analysis of a cohort of infants in a NICU in the Democratic Republic of Congo."

 

Anne Slavotinek, Co-Editor-in-Chief at American Journal of Medical Genetics added: “Cedrik Tekendo-Ngongang and colleagues contribute an outstanding paper on Rubinstein-Taybi syndrome to a group of papers aimed at syndrome recognition in diverse populations – their paper highlights just how important it is to include all ancestries in research on rare diseases.”

 

Suzanne Hart, Editor-in-Chief at Molecular Genetics and Genomic Medicine wrote this on the articles included in this collection: "The articles from Molecular Genetics and Genomic Medicine (MGGM) included in this virtual issue on African Genomics report on oncology, birth defects, pregnancy complications, and genetic diversity. These articles demonstrate findings consistent with those that were previously reported for other cohorts as well as those that are unique. These studies highlight how detailed exploration of phenotypes and conditions from diverse populations is necessary for accurate diagnosis, genetic counseling, management and ultimately treatment. MGGM is committed to publishing articles from underrepresented populations to provide insight into human diversity."

American Journal of Medical Genetics: Part A

Annals of Human Genetics

Clinical Genetics

Full Access

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported.

Human Mutation