Next-generation sequencing (NGS) and third-generation sequencing (TGS) for the diagnosis of thalassemia
Thalassemia is one of the most heterogeneous diseases, with more than a thousand
mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional …
mutation types recorded worldwide. Molecular diagnosis of thalassemia by conventional …
Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review
SA Suhaimi, IN Zulkipli, H Ghani… - Frontiers in …, 2022 - frontiersin.org
Thalassemias are a group of inherited blood disorders that affects 5–7% of the world
population. Comprehensive screening strategies are essential for the management and …
population. Comprehensive screening strategies are essential for the management and …
The role of molecular diagnostic testing for hemoglobinopathies and thalassemias
DE Sabath - International Journal of Laboratory Hematology, 2023 - Wiley Online Library
Hemoglobin disorders are among the most common genetic diseases worldwide. Molecular
diagnosis is helpful in cases where the diagnosis is uncertain and for genetic counseling …
diagnosis is helpful in cases where the diagnosis is uncertain and for genetic counseling …
Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants
W Huang, S Qu, Q Qin, X Yang, W Han, Y Lai… - Clinical …, 2023 - academic.oup.com
Abstract Background Oxford Nanopore Technology (ONT) third-generation sequencing
(TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to …
(TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to …
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors
YJ Lin, AS Menon, Z Hu, SE Brenner - Human Genomics, 2024 - Springer
Background Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation
K Singha, W Tepakhan, S Yamsri, A Chaibunruang… - Clinica Chimica …, 2024 - Elsevier
Background and aims To update the molecular characteristics of α-thalassemia in northeast
Thailand, the molecular basis and genetic interactions of Hb H disease were examined in a …
Thailand, the molecular basis and genetic interactions of Hb H disease were examined in a …
[HTML][HTML] Genome-wide association study of BNT162b2 vaccine-related myocarditis identifies potential predisposing functional areas in Hong Kong adolescents
Vaccine-related myocarditis associated with the BNT162b2 vaccine is a rare complication,
with a higher risk observed in male adolescents. However, the contribution of genetic factors …
with a higher risk observed in male adolescents. However, the contribution of genetic factors …
Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors
YJ Lin, AS Menon, Z Hu, SE Brenner - bioRxiv, 2024 - biorxiv.org
Background: Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …