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dc.contributor.authorClark, Wyatt T
dc.contributor.authorKasak, Laura
dc.contributor.authorBakolitsa, Constantina
dc.contributor.authorHu, Zhiqiang
dc.contributor.authorAndreoletti, Gaia
dc.contributor.authorBabbi, Giulia
dc.contributor.authorBromberg, Yana
dc.contributor.authorCasadio, Rita
dc.contributor.authorDunbrack, Roland
dc.contributor.authorFolkman, Lukas
dc.contributor.authorFord, Colby T
dc.contributor.authorJones, David
dc.contributor.authorKatsonis, Panagiotis
dc.contributor.authorKundu, Kunal
dc.contributor.authorLichtarge, Olivier
dc.contributor.authorMartelli, Pier L
dc.contributor.authorMooney, Sean D
dc.contributor.authorNodzak, Conor
dc.contributor.authorPal, Lipika R
dc.contributor.authorIvojac, Pred Rag Rad
dc.contributor.authorSavojardo, Castrense
dc.contributor.authorShi, Xinghua
dc.contributor.authorZhou, Yaoqi
dc.contributor.authorUppal, Aneeta
dc.contributor.authorXu, Qifang
dc.contributor.authorYin, Yizhou
dc.contributor.authorPejaver, Vikas
dc.contributor.authorWang, Meng
dc.contributor.authorWei, Liping
dc.contributor.authorMoult, John
dc.contributor.authorYu, Guoying Karen
dc.contributor.authorBrenner, Steven E
dc.contributor.authorLeBowitz, Jonathan H
dc.date.accessioned2019-08-29T04:57:03Z
dc.date.available2019-08-29T04:57:03Z
dc.date.issued2019
dc.identifier.issn1059-7794
dc.identifier.doi10.1002/humu.23875
dc.identifier.urihttp://hdl.handle.net/10072/386789
dc.description.abstractThe NAGLU challenge of the fourth edition of the Critical Assessment of Genome Interpretation experiment (CAGI4) in 2016, invited participants to predict the impact of variants of unknown significance (VUS) on the enzymatic activity of the lysosomal hydrolase α‐N‐acetylglucosaminidase (NAGLU). Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type B (MPS type IIIB). This challenge attracted 17 submissions from 10 groups. We observed that top models were able to predict the impact of missense mutations on enzymatic activity with Pearson's correlation coefficients of up to 0.61. We also observed that top methods were significantly more correlated with each other than they were with observed enzymatic activity values, which we believe speaks to the importance of sequence conservation across the different methods. Improved functional predictions on the VUS will help population scale analysis of disease epidemiology and rare variant association analysis.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofjournalHuman Mutation
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchcode0604
dc.subject.fieldofresearchcode1103
dc.subject.keywordsCAGI
dc.subject.keywordsSanfilippo syndrome
dc.subject.keywordsalpha-N-acetylglucosaminidase
dc.subject.keywordscritical assessment
dc.subject.keywordsenzymatic activity
dc.titleAssessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016.
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationClark, et al., Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016., Human Mutationt, 2019
dc.date.updated2019-08-29T04:51:13Z
dc.description.versionAccepted Manuscript (AM)
gro.description.notepublicThis publication has been entered into Griffith Research Online as an Advanced Online Version.
gro.rights.copyright© 2019 Wiley Periodicals Inc. This is the peer reviewed version of the following article: Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016, Human Mutation, which has been published in final form at 10.1002/humu.23875. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving (http://olabout.wiley.com/WileyCDA/Section/id-828039.html)
gro.hasfulltextFull Text
gro.griffith.authorZhou, Yaoqi
gro.griffith.authorFolkman, Lukas


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