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Protocols

RCP specifications

Information


Unique identifier OMICS_28795
Name RCP
Alternative name Reference Coverage Profiles
Software type Pipeline/Workflow
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes

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Versioning


No version available

Maintainer


  • person_outline Gustavo Glusman

Publication for Reference Coverage Profiles

RCP citations

 (3)
call_split

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

2018
PMCID: 5902396
PMID: 29368431
DOI: 10.1002/mgg3.357
call_split See protocol

[…] oup of clinical and molecular geneticists and bioinformaticists for likelihood of pathogenicity following the ACMG guidelines (Richards et al., ).For the internal pipeline, CNVs were called using the Reference Coverage Profiles method (Glusman et al., ) then filtered for those considered candidates for causality. Candidate CNVs were required to have frequency <0.05 in a predominantly healthy contr […]

library_books

Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

2017
PMCID: 5701300
PMID: 28701297
DOI: 10.1101/mcs.a002055

[…] na Whole Human Genome Sequencing Service Informatics Pipeline version 2.0.2 with iSAAC software () and human reference assembly hg19 (). Copy-number variants (CNVs) were called for each genome by the Reference Coverage Profiles method (). […]

library_books

A wellness study of 108 individuals using personal, dense, dynamic data clouds

2017
Nat Biotechnol
PMCID: 5568837
PMID: 28714965
DOI: 10.1038/nbt.3870

[…] se of the original study. The combination of these filters retained 127 genetic traits that we used for further analysis. Three common CNVs were included as additional genetic features computed using Reference Coverage Profiles, bringing the total to 130. See for all genetic traits computed for this manuscript.Included in the GWAS catalog are the beta-coefficients/odds ratios as well as the p-val […]

Citations

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RCP institution(s)
Institute for Systems Biology, Seattle, WA, USA; Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA

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