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| Título: | Splicing Functional Assays of ATM splice-site variants identified in the BRIDGES project |
Autor: | Bueno-Martínez, Elena CSIC ORCID CVN; Valenzuela-Palomo, Alberto CSIC; Sanoguera-Miralles, Lara CSIC ORCID CVN; Velasco, Eladio CSIC ORCID | Palabras clave: | Splicing Breast cancer ATM, Minigene Splicing assays |
Fecha de publicación: | 30-mar-2022 | Editor: | DIGITAL.CSIC | Citación: | Bueno-Martínez, Elena; Valenzuela-Palomo, Alberto; Sanoguera-Miralles, Lara; Velasco, Eladio; 2022; Splicing Functional Assays of ATM splice-site variants identified in the BRIDGES project [dataset]; DIGITAL.CSIC; https://doi.org/10.20350/digitalCSIC/14573 | Resumen: | This dataset corresponds to a systematic splicing analysis of splice-site variants of the breast cancer susceptibility gene ATM, which had been sequenced in 113,000 women who took part of the large-scale sequencing project BRIDGES. A set of 381 variants at the intron-exon boundaries were identified, 128 of which were predicted spliceogenic. After further filtering, we ended up selecting 56 variants for splicing analysis in four minigene constructs. Forty-eight variants impaired splicing, 29 of which were classified as pathogenic/likely pathogenic variants according to ACMG/AMP-based guidelines, so that carrier patients and families may benefit from tailored prevention protocols and personalized therapies. | Descripción: | [Description of methods used for collection/generation of data] Splicing functional assays of ATM variants by hybrid minigenes [Instrument- or software-specific information needed to interpret/reproduce the data] - Sequence analysis (.ab1 files) with appropriate software, such as SnapGene Viewer (https://www.snapgene.com/snapgene-viewer/). - Fluorescent Fragment analysis (.fsa files) with Peak Scanner v1.0 (https://www.thermofisher.com/order/catalog/product/4381867#/4381867). [Standards and calibration information] Fragment analysis electrophoresis was run with Liz1200 as size standard. [Environmental/experimental conditions] As indicated in the submitted manuscript. [People involved with sample collection, processing, analysis and/or submission] Bueno-Martínez, Elena (E.B.-M); Valenzuela-Palomo, Alberto (A.V.-P.); Sanoguera-Miralles, Lara (L.S.-M.); Velasco Sampedro, Eladio A (E.A.V.-S.) Conceptualization, E.A.V.-S.; Data curation, E.B.-M., L.S.-M., A.V.-P.; Formal analysis, E.B.-M., L.S.-M., A.V.-P. and E.A.V.-S.; Funding acquisition, E.A.V.-S.; Investigation, E.B.-M., L.S.-M., A.V.-P. and E.A.V.-S.; Methodology, A.V.-P., L.S.-M., E.B.-M., A.G.-A., and E.A.V.-S.; Supervision, E.A.V.-S. Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0). This only allows people to download and share your work for no commercial gain and for no other purposes. |
URI: | http://hdl.handle.net/10261/265669 | DOI: | https://doi.org/10.20350/digitalCSIC/14573 | Referencias: | Bueno-Martínez et al 2022 (submitted manuscript). "Minigene-based splicing analysis and ACMG/AMP clinical classification of 56 ATM variants". |
| Aparece en las colecciones: | (IBGM) Conjuntos de datos |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| repositorio_atm.zip | 62,54 MB | Unknown | Visualizar/Abrir | |
| readme.txt | 17,52 kB | Text | Visualizar/Abrir |
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