Familial thrombocytopenia: The long and short of it

In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med. https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA seq...

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Detalles Bibliográficos
Autores principales: Murphy, Lauren, Mead, Adam J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Insights
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142280/
https://www.ncbi.nlm.nih.gov/pubmed/34014260
http://dx.doi.org/10.1084/jem.20210604
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author Murphy, Lauren
Mead, Adam J.
author_facet Murphy, Lauren
Mead, Adam J.
author_sort Murphy, Lauren
collection PubMed
description In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med. https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA sequencing revealed a complex structural variant, causing overexpression of a pathogenic gain-of-function WAC-ANKRD26 fusion transcript.
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spelling pubmed-81422802021-12-07 Familial thrombocytopenia: The long and short of it Murphy, Lauren Mead, Adam J. J Exp Med Insights In this issue, Wahlster, Verboon, and colleagues (2021. J. Exp. Med. https://doi.org/10.1084/jem.20210444) describe a multigenerational family with inherited thrombocytopenia where the causal variant was not identified using conventional genome sequencing approaches. Long-read sequencing and RNA sequencing revealed a complex structural variant, causing overexpression of a pathogenic gain-of-function WAC-ANKRD26 fusion transcript. Rockefeller University Press 2021-05-20 /pmc/articles/PMC8142280/ /pubmed/34014260 http://dx.doi.org/10.1084/jem.20210604 Text en © 2021 Murphy and Mead http://www.rupress.org/terms/https://creativecommons.org/licenses/by-nc-sa/4.0/This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).
spellingShingle Insights
Murphy, Lauren
Mead, Adam J.
Familial thrombocytopenia: The long and short of it
title Familial thrombocytopenia: The long and short of it
title_full Familial thrombocytopenia: The long and short of it
title_fullStr Familial thrombocytopenia: The long and short of it
title_full_unstemmed Familial thrombocytopenia: The long and short of it
title_short Familial thrombocytopenia: The long and short of it
title_sort familial thrombocytopenia: the long and short of it
topic Insights
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142280/
https://www.ncbi.nlm.nih.gov/pubmed/34014260
http://dx.doi.org/10.1084/jem.20210604
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