Whole exome sequencing for thalassemia
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Whole exome sequencing (WES) has been used in several studies to investigate thalassemia . WES involves sequencing the protein-coding regions of the genome, which allows for the identification of genetic variants associated with thalassemia . In one study, WES was used to explore the phenotypic variability in HbE-beta thalassemia patients with the same HBB genotype . The study identified inherited variants in genes associated with iron absorption, oxidative stress, hematopoietic stem cell differentiation, and structural organization of red blood cell cytoskeleton, which may contribute to the severity of the disease . Another study used WES to prepare long-template libraries for long-read sequencing of hemoglobinopathy variants, demonstrating its potential for molecular screening and genetic diagnosis of thalassemias . Additionally, a study compared WES with PCR-based methods for prenatal diagnosis of thalassemia and found that WES provided more comprehensive and accurate results, potentially improving genetic counseling and clinical outcomes . Overall, WES has shown promise in understanding the genetic basis of thalassemia and improving diagnostic approaches.
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| The provided paper does not mention the use of whole exome sequencing for thalassemia. | |
6 Citations | The paper does not mention the use of whole exome sequencing for thalassemia. The paper is about the identification of thalassemia gene cluster deletion using long-read whole-genome sequencing. |
| The paper describes a whole exome sequencing study of two families with thalassemia to identify modifier genes for phenotype heterogeneity. | |
03 Jan 2023 | The paper describes a whole exome sequencing study to identify modifier genes for phenotype heterogeneity in severe and non-severe thalassemia patients. |
| The provided paper is about using Oxford Nanopore Technology (ONT) third-generation sequencing for comprehensive analysis of hemoglobinopathy variants. It does not mention whole exome sequencing for thalassemia. |
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