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|Alternative name||Reference Coverage Profiles|
|Interface||Command line interface|
|Restrictions to use||None|
No version available
- person_outline Gustavo Glusman
Publication for Reference Coverage Profiles
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital
[…] 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 […]
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy
[…] 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 (). […]
A wellness study of 108 individuals using personal, dense, dynamic data clouds
[…] 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 […]
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