Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects.
Journal
Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
21
08
2018
accepted:
22
02
2019
pubmed:
2
3
2019
medline:
8
7
2020
entrez:
2
3
2019
Statut:
ppublish
Résumé
Primary platelet secretion defects constitute a heterogeneous group of functional defects characterized by reduced platelet granule secretion upon stimulation by different agonists. The clinical and laboratory heterogeneity of primary platelet secretion defects warrants a tailored approach. We performed a pilot study in order to develop DNA sequence analysis pipelines for gene discovery and to create a list of candidate causal genes for platelet secretion defects. Whole-exome sequencing analysis of 14 unrelated Italian patients with primary secretion defects and 16 controls was performed on Illumina HiSeq. Variant prioritization was carried out using two filtering approaches: identification of rare, potentially damaging variants in platelet candidate genes or by selecting singletons. To corroborate the results, exome sequencing was applied in a family in which platelet secretion defects and a bleeding diathesis were present. Platelet candidate gene analysis revealed gene defects in 10/14 patients, which included
Identifiants
pubmed: 30819905
pii: haematol.2018.204990
doi: 10.3324/haematol.2018.204990
pmc: PMC6886420
doi:
Types de publication
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2084-2090Informations de copyright
Copyright© 2019 Ferrata Storti Foundation.
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