Revision history of "Reclassification of variants of uncertain meaning in Hypertrophic Myocardiopathy: genetic variation in a cohort control and transcriptome analysis." (Q3165582)

11 October 2024

• curprev 09:4009:40, 11 October 2024‎ DG Regio talk contribs‎ 67,034 bytes −2‎ ‎Changed label, description and/or aliases in pt
• curprev 09:4009:40, 11 October 2024‎ DG Regio talk contribs‎ 67,036 bytes +13‎ ‎Set a claim value: summary (P836): Variantes de significado incerto (VSI) são o maior problema na determinação do diagnóstico em miocardiopatia hipertrófica. Atualmente, são um beco sem saída que bloqueia o aconselhamento genético em indivíduos com genótipo+/fenótipo+. Temos de: 1.Dados genéticos-populacionais da população geral acessíveis à validação de variantes raras, para além dos dados brutos de bases exónicas anonimizadas (propomos caracterizar uma coorte controlada de mais de...

23 March 2024

• curprev 10:0310:03, 23 March 2024‎ DG Regio talk contribs‎ 67,023 bytes +288‎ ‎Added qualifier: readability score (P590521): 0.2844376012308927

20 December 2023

• curprev 17:0117:01, 20 December 2023‎ DG Regio talk contribs‎ 66,735 bytes +7‎ ‎Changed an Item

12 June 2023

• curprev 13:5913:59, 12 June 2023‎ DG Regio talk contribs‎ 66,728 bytes +540‎ ‎Changed an Item

10 June 2023

• curprev 07:0307:03, 10 June 2023‎ Admin talk contribs‎ 66,188 bytes +437‎ BatchIngestion

4 August 2022

• curprev 09:4509:45, 4 August 2022‎ DG Regio talk contribs‎ 65,751 bytes +44,601‎ ‎Changed label, description and/or aliases in et, lt, hr, el, sk, fi, pl, hu, cs, lv, ga, sl, bg, mt, pt, da, ro, sv, nl, fr, de, it, es, and other parts: Adding translations: et, lt, hr, el, sk, fi, pl, hu, cs, lv, ga, sl, bg, mt, pt, da, ro, sv,

16 January 2022

• curprev 13:3113:31, 16 January 2022‎ DG Regio talk contribs‎ 21,150 bytes +2,242‎ ‎Changed label, description and/or aliases in it, and other parts: Adding Italian translations

17 December 2021

• curprev 13:2813:28, 17 December 2021‎ DG Regio talk contribs‎ 18,908 bytes +2,303‎ ‎Changed label, description and/or aliases in nl, and other parts: Adding Dutch translations

9 December 2021

• curprev 13:3113:31, 9 December 2021‎ DG Regio talk contribs‎ 16,605 bytes +2,316‎ ‎Changed label, description and/or aliases in de, and other parts: Adding German translations

4 December 2021

• curprev 12:1612:16, 4 December 2021‎ DG Regio talk contribs‎ 14,289 bytes +2,403‎ ‎Changed label, description and/or aliases in fr, and other parts: Adding French translations

12 October 2021

• curprev 17:1317:13, 12 October 2021‎ DG Regio talk contribs‎ 11,886 bytes +1,924‎ ‎Created 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). 2....
• curprev 17:1317:13, 12 October 2021‎ DG Regio talk contribs‎ 9,962 bytes −1,924‎ ‎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)....
• curprev 17:0617:06, 12 October 2021‎ DG Regio talk contribs‎ 11,886 bytes +207‎ ‎Changed label, description and/or aliases in en: translated_label
• curprev 17:0617:06, 12 October 2021‎ DG Regio talk contribs‎ 11,679 bytes +1,924‎ ‎Created 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). 2....

10 October 2021

• curprev 18:3918:39, 10 October 2021‎ DG Regio talk contribs‎ 9,755 bytes +433‎ ‎Changed an Item: Edited by the materialized bot - inferring region from the coordinates

9 October 2021

• curprev 13:3713:37, 9 October 2021‎ DG Regio talk contribs‎ 9,322 bytes +499‎ ‎Changed an Item: Edited by the infer coords bot - inferring coordinates from location

8 October 2021

• curprev 07:5907:59, 8 October 2021‎ DG Regio talk contribs‎ 8,823 bytes −10‎ ‎Changed label, description and/or aliases in en
• curprev 07:5907:59, 8 October 2021‎ DG Regio talk contribs‎ 8,833 bytes +8,833‎ ‎Created a new Item