Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in
Medical genomics
Molecular medicine
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2019
2019
Historique:
received:
31
05
2019
accepted:
01
11
2019
entrez:
10
12
2019
pubmed:
10
12
2019
medline:
10
12
2019
Statut:
epublish
Résumé
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional 'footprint' of these genes by over 674 kb. Using
Identifiants
pubmed: 31814998
doi: 10.1038/s41525-019-0106-7
pii: 106
pmc: PMC6889285
doi:
Types de publication
Journal Article
Langues
eng
Pagination
31Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Informations de copyright
© The Author(s) 2019.
Déclaration de conflit d'intérêts
Competing interestsC.A.S., A.S.R. and N.J.L. are employed by Congenica Ltd. P.F. is a member of the scientific advisory boards for Fabric Genomics, Inc., and Eagle Genomics, Ltd. S.P. is an employee and D.V. is a postdoc of AstraZeneca. The remaining authors declare they have no competing interests.
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