Protocols

Seave specifications

Information


Unique identifier OMICS_27157
Name Seave
Restrictions to use None
Database management system MySQL
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes

Maintainer


  • person_outline Mark Cowley

Additional information


https://github.com/KCCG/seave

Publication for Seave

Seave citations

 (2)
call_split

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

2016
PMCID: 5061846
PMID: 27679996
DOI: 10.1007/s10048-016-0495-z
call_split See protocol

[…] (including ExAC), variant impact, in silico prediction (SIFT and Polyphen2), known HSP genes (Supplementary Table ), genes previously associated with neurological phenotypes and the HSPome [], using Seave (seave.bio). For the family studies, variants were also filtered according to homozygous, compound heterozygous, de novo dominant and X-linked recessive models of inheritance, as appropriate. Al […]

call_split

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

2016
Neurology
PMCID: 4932233
PMID: 27281532
DOI: 10.1212/WNL.0000000000002813
call_split See protocol

[…] y any pathogenic mutations in the affected individual of family 2; subsequently WES was carried out at the University of Washington Genome Center. Data from VCF files were analyzed using the in-house Seave analysis pipeline (Kinghorn Centre for Clinical Genomics, Sydney, Australia) under homozygous and potentially compound heterozygote models. The effect of amino acid substitutions for sequence va […]

Seave institution(s)
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia; Genome.One, Sydney, NSW, Australia; St Vincent’s Clinical School, University of New South Wales, Sydney, NSW, Australia; Sydney Children’s Hospital, Sydney, NSW, Australia
Seave funding source(s)
Supported by a philanthropic grant from the Kinghorn Foundation; by an Early Career Fellowship from Cancer Institute NSW (13/ECF/1-46) and grant ECP 1-96 from the NSW Department of Health.

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