Transcript-Specific Loss-of-Function Variants in
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
07
05
2021
accepted:
08
10
2021
entrez:
13
12
2021
pubmed:
14
12
2021
medline:
14
12
2021
Statut:
epublish
Résumé
Our objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare In-house exome and genome data sets (n = 11,539) were screened for rare heterozygous missense and putative loss-of-function (pLoF) variants in Six different heterozygous pLoFs in Our data provide strong evidence for
Sections du résumé
BACKGROUND AND OBJECTIVES
OBJECTIVE
Our objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare
METHODS
METHODS
In-house exome and genome data sets (n = 11,539) were screened for rare heterozygous missense and putative loss-of-function (pLoF) variants in
RESULTS
RESULTS
Six different heterozygous pLoFs in
DISCUSSION
CONCLUSIONS
Our data provide strong evidence for
Identifiants
pubmed: 34901436
doi: 10.1212/NXG.0000000000000644
pii: NG2021017063
pmc: PMC8656243
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e644Informations de copyright
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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