Publications by authors named "Z H Coban-Akdemir"
Article Synopsis
- The study investigates the genetic variance (variome) of the Turkish population, focusing on how admixture and consanguinity influence their genomic makeup related to diseases.
- Exome sequencing data from 773 affected individuals and 643 unaffected relatives revealed that Turkish genomes are closely related to Europeans, with two main subpopulations showing different levels of genetic mixing.
- The analysis identified that higher inbreeding coefficients and longer runs of homozygosity in affected individuals are linked to rare harmful genetic variants, emphasizing their role in hereditary diseases within this population.
Article Synopsis
- - The study investigates laterality defects, focusing on the genetic variations linked to congenital heart disease (CHD) by analyzing sequencing data from three cohorts, uncovering a higher occurrence of digenic variants compared to control groups.
- - A digenic model involving 115 known laterality defect genes revealed significant rates of trans-heterozygous digenic variants in affected individuals, particularly in the Baylor, Kids First, and PCGC cohorts (ranging from 2.8% to 13.5%).
- - The results suggest that epistatic interactions between genes play a crucial role in the genetics of laterality defects, with 23% of identified digenic pairs found in structural complexes of motile
Article Synopsis
- Inversions are structural variants that play a role in genetic diseases, but they are tough to detect and analyze, despite improvements in sequencing technologies and the availability of public datasets.
- The study focuses on a case of familial hemophagocytic lymphohistiocytosis type-3, revealing a specific inversion that is extremely rare.
- A comparison of multiple datasets highlights common and unique features of inversions, with findings suggesting that these rare variants may contribute to autosomal recessive diseases, implying their significance in understanding and diagnosing rare genetic disorders.
Article Synopsis
- FLVCR1 is a protein involved in transporting essential compounds like heme and choline, with mutations linked to serious developmental disorders and neurodegenerative conditions in humans.
- Researchers identified 30 patients with biallelic FLVCR1 variants who displayed severe developmental issues, including brain malformations and other complications, paralleling symptoms seen in mouse models and conditions like Diamond-Blackfan anemia (DBA).
- The findings emphasize that FLVCR1 variants could cause a wide range of health problems, underscoring the need for diverse genetic testing and consideration of animal model data in understanding human genetic disorders.
Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Tugce Bozkurt-Yozgatli Davut Pehlivan Richard A Gibbs Ugur Sezerman Jennifer E Posey Zeynep Coban-Akdemir
BMC Med Genomics
August 2024