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Carrier Screening - DOAJ

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Last Updated: 12 September 2022

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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

Using real-time polymerase chain reaction and next generation sequencing, we performed custom panel genotyping of 3821 individuals from two Russian population representative samples and three patient groups. The comparison of genotyping methods revealed the following benefits of real-time PCR: low cost, simple genotyping techniques, and faster detection of large indels, as well as greater sensitivity of variant identification and capability in adjacent regions. In comparison to non-Finnish Europeans from gnomAD, a total of 23 variants had significant differences in estimated AF.

Source link: https://doi.org/10.3390/jpm12071132


A Data-Driven Approach to Carrier Screening for Common Recessive Diseases

Genetic testing is a simple method for minimizing recessive disease burdens. This paper describes the design of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss involving 116 variants of the CFTR, PAH, SERPINA1, and GJB2 genes. The incidence of heterozygotes in the Russian population was 16. 8 percent or 1:6 in CFTR u20142. 81%, PAH u20143. 3%, SERPINA1 u20146. 10%, and GJB2 u20146. 83% : CFTR u20142. 89% : CFTR 81. 81 %, FIGUE 3. 8 percent u201468. 83%. For the first time on a Russian population, the results on allele frequencies were obtained.

Source link: https://doi.org/10.3390/jpm10030140


Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set

In the findings of studies of reproductive genetic carrier screening, there is a significant difference in the outcomes. A main outcome set is an effort to standardize outcome reporting, allowing direct comparison of findings from studies to increase knowledge of risks and potential risks. The aim of this research was to include the patient perspective in the design of a key outcome set by eliciting a thorough understanding of patients' outcomes. This includes the role of grief and loss in increased risk couples, the role of autonomy in conceptualizing RGCS' effectiveness, the benefits of social context and barriers that contribute to negative experiences, and the role of genetic counseling in ensuring that information needs are satisfied and informed choice facilitated as RGCS becomes more common.

Source link: https://doi.org/10.3390/jpm12081310


Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China

Mehods: This study was intended to determine the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel that is suitable in China. In total, 254 people had genetic disease symptoms, and 56 of them were diagnosed with genetic disease by MES. paraphrasedoutput:u201d or u201csevere. u201dConclusion: This report revealed that the ARC prevalence was 9. 8% and couples were likely to perform preimplantation genetic testing when diseases were classified as u201cprofoundu201d or u201d.

Source link: https://doi.org/10.3389/fgene.2022.943058

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions