Reclassification of variants of uncertain meaning in Hypertrophic Myocardiopathy: genetic variation in a cohort control and transcriptome analysis. (Q3165582): Difference between revisions

From EU Knowledge Graph
Jump to navigation Jump to search
(‎Changed label, description and/or aliases in en: translated_label)
(‎Removed claim: summary (P836): Variants of uncertain meaning (ISV) are the biggest problem in determining the diagnosis in Hypertrophic Myocardiopathy. They are currently a dead end that blocks genetic advice in genotype+/phenotype+ subjects. We need to: 1.Genetic-population data of the general population accessible to validation of rare variants, beyond raw data from anonymised exonic bases (we propose to characterise a controlled cohort of more than a thousand subjects)....)
Property / summary
Variants of uncertain meaning (ISV) are the biggest problem in determining the diagnosis in Hypertrophic Myocardiopathy. They are currently a dead end that blocks genetic advice in genotype+/phenotype+ subjects. We need to: 1.Genetic-population data of the general population accessible to validation of rare variants, beyond raw data from anonymised exonic bases (we propose to characterise a controlled cohort of more than a thousand subjects). 2.Implementation of the meaning of many VSIs using fine imaging techniques such as resonance, which facilitate the reclassification of the sarcomeric variation spectrum in MCH. 3. Develop an experimental procedure that allows functional definition of these ISVs, and goes beyond the heart tissue not available in many patients: we propose to analyse the effect of candidate variants on expression and allelic imbalance in primary leukocyte crops. Our objective is therefore to implement the reclassification of ISVs in HCM through own genetic-population data, imaging techniques applicable to G+/F- family members, and study of sarcomeric transcriptoma. (English)
 
Property / summary: Variants of uncertain meaning (ISV) are the biggest problem in determining the diagnosis in Hypertrophic Myocardiopathy. They are currently a dead end that blocks genetic advice in genotype+/phenotype+ subjects. We need to: 1.Genetic-population data of the general population accessible to validation of rare variants, beyond raw data from anonymised exonic bases (we propose to characterise a controlled cohort of more than a thousand subjects). 2.Implementation of the meaning of many VSIs using fine imaging techniques such as resonance, which facilitate the reclassification of the sarcomeric variation spectrum in MCH. 3. Develop an experimental procedure that allows functional definition of these ISVs, and goes beyond the heart tissue not available in many patients: we propose to analyse the effect of candidate variants on expression and allelic imbalance in primary leukocyte crops. Our objective is therefore to implement the reclassification of ISVs in HCM through own genetic-population data, imaging techniques applicable to G+/F- family members, and study of sarcomeric transcriptoma. (English) / rank
Normal rank
 
Property / summary: Variants of uncertain meaning (ISV) are the biggest problem in determining the diagnosis in Hypertrophic Myocardiopathy. They are currently a dead end that blocks genetic advice in genotype+/phenotype+ subjects. We need to: 1.Genetic-population data of the general population accessible to validation of rare variants, beyond raw data from anonymised exonic bases (we propose to characterise a controlled cohort of more than a thousand subjects). 2.Implementation of the meaning of many VSIs using fine imaging techniques such as resonance, which facilitate the reclassification of the sarcomeric variation spectrum in MCH. 3. Develop an experimental procedure that allows functional definition of these ISVs, and goes beyond the heart tissue not available in many patients: we propose to analyse the effect of candidate variants on expression and allelic imbalance in primary leukocyte crops. Our objective is therefore to implement the reclassification of ISVs in HCM through own genetic-population data, imaging techniques applicable to G+/F- family members, and study of sarcomeric transcriptoma. (English) / qualifier
point in time: 12 October 2021
Timestamp+2021-10-12T00:00:00Z
Timezone+00:00
CalendarGregorian
Precision1 day
Before0
After0
 

Revision as of 17:13, 12 October 2021

Project Q3165582 in Spain
Language Label Description Also known as
English
Reclassification of variants of uncertain meaning in Hypertrophic Myocardiopathy: genetic variation in a cohort control and transcriptome analysis.
Project Q3165582 in Spain

    Statements

    country
    Spain
    0 references
    EU contribution
    49,600.0 Euro
    0 references
    budget
    62,000.0 Euro
    0 references
    co-financing rate
    80.0 percent
    0 references
    start time
    1 January 2019
    0 references
    end time
    31 March 2022
    0 references
    beneficiary name (string)
    FUNDACION PARA LA INVESTIGACION E INNOVACION BIOSANITARIA EN EL PRINCIPADO DE ASTURIAS
    0 references
    beneficiary
    Q3137940
    0 references
    coordinate location

    43°21'38.16"N, 5°50'41.64"W
    0 references
    postal code
    33044
    0 references
    summary
    Las variantes de significado incierto (VSI) son el mayor problema para precisar el diagnóstico en la Miocardiopatía Hipertrófica. Actualmente son un callejón sin salida que bloquea el consejo genético en los sujetos genotipo+/fenotipo+. Necesitamos: 1.Datos genético-poblacionales de la población general accesible a validación de variantes raras, más allá de los datos crudos de bases exónicas anonimizadas (proponemos caracterizar una cohorte controlada de más de mil sujetos). 2.Implementación del significado de muchas VSI mediante técnicas de imagen finas como la resonancia, que faciliten la reclasificación del espectro de variación sarcomérica en la MCH. 3. Desarrollar un procedimiento experimental que permite definir funcionalmente estas VSI, y vaya más allá del tejido cardiaco no disponible en muchos pacientes: proponemos analizar el efecto de las variantes candidatas sobre la expresión y el desbalance alélico en cultivos leucocitarios primarios. Nuestro objetivo es pues implementar la reclasificación de las VSI en la MCH mediante datos genético-poblacionales propios, técnicas de imagen aplicables los familiares G+/F-, y estudio del transcriptoma sarcomérico. (Spanish)
    0 references
    location (string)
    Oviedo
    0 references

    Identifiers

    Spanish Kohesio ID
    PI18_00719
    0 references
     
    Retrieved from "https://linkedopendata.eu/w/index.php?title=Item:Q3165582&oldid=12832863"