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Protocols

denovo-db specifications

Information


Unique identifier OMICS_17885
Name denovo-db
Restrictions to use None
Database management system PostgreSQL
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Maintainer


  • person_outline Tychele Turner

Publication for denovo-db

denovo-db citations

 (3)
call_split

Prospective investigation of FOXP1 syndrome

2017
Mol Autism
PMCID: 5655854
PMID: 29090079
DOI: 10.1186/s13229-017-0172-6
call_split See protocol

[…] We searched the published literature for mutations in FOXP1 using PubMed, the Human Gene Mutation Database (HGMD) Professional (Biobase), and denovo-db []. We retrieved and examined the genetic information from all studies indicated in Additional file : Table S1. We also included pathogenic mutations reported in ClinVar (NCBI, http://www.nc […]

library_books

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

2017
Nat Neurosci
PMCID: 5539915
PMID: 28628100
DOI: 10.1038/nn.4589

[…] ugust 2016]) (n = 6,503) or the Exome Aggregation Consortium (ExAC) database v.0.3 without neuropsychiatric disorders (n = 45,376)) (). None of these mutations were observed in unaffected controls in denovo-db v.0.9. Seven sites had more than two recurrent mutations (e.g., PACS1 with six mutations at residue 203) and some genes had more than one recurrently mutated amino acid residue (e.g., SCN2A) […]

library_books

The 24th annual Nucleic Acids Research database issue: a look back and upcoming changes

2016
Nucleic Acids Res
PMCID: 5210597
PMID: 28053160
DOI: 10.1093/nar/gkw1188

[…] comprehensive resources linking pathogenic gene variants to a variety of other data.The third database in this issue recognized by the NAR reviewers and editors with the ‘Breakthrough’ designation is denovo-db, a database of mutations that have been found in human subjects but which were missing in both of their parents (). The database lists ∼32 000 sites in the genome with data obtained from >16 […]

Citations

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denovo-db institution(s)
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA; Medical Scientist Training Program, Department of Pathology, University of Washington, Seattle, WA, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
denovo-db funding source(s)
This work was supported by the Simons Foundation [SFARI 303241], the National Institute of Mental Health [R01MH101221], the National Human Genome Research Institute and the National Heart, the Lung and Blood Institute [2UM1HG006493] and the National Human Genome Research Institute [postdoctoral training grant 2T32HG000035].

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