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Article

Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.

Journal of thrombosis and haemostasis : JTH - 1 Jan 2021

Khan Abdullah O, Stapley Rachel J, Pike Jeremy A, Wijesinghe Susanne N, Reyat Jasmeet S, Almazni Ibrahim, Machlus Kellie R, Morgan Neil V

Abstract excerpt

Essentials Identifying genetic variants in platelet disorders is challenging due to its heterogenous nature. We combine WES, RNAseq, and python-based bioinformatics to identify novel gene variants. We find novel candidates in patient data by cross-referencing against a murine RNAseq model of thrombopoiesis. This innovative combined bioinformatic approach provides novel data for future research in the field....

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PMID: 33021027
DOI: 10.1111/jth.15119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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