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Part 1: Document Description
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Citation |
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Title: |
Replication Data for: "ramr: an R package for detection of rare aberrantly methylated regions" |
Identification Number: |
doi:10.18710/ED8HSD |
Distributor: |
DataverseNO |
Date of Distribution: |
2020-11-30 |
Version: |
2 |
Bibliographic Citation: |
Nikolaienko, Oleksii, 2020, "Replication Data for: "ramr: an R package for detection of rare aberrantly methylated regions"", https://doi.org/10.18710/ED8HSD, DataverseNO, V2, UNF:6:mHk2VYyjhtEzz5muuhFrqw== [fileUNF] |
Citation |
|
Title: |
Replication Data for: "ramr: an R package for detection of rare aberrantly methylated regions" |
Identification Number: |
doi:10.18710/ED8HSD |
Authoring Entity: |
Nikolaienko, Oleksii (University of Bergen) |
Producer: |
University of Bergen |
Software used in Production: |
R |
Software used in Production: |
comb-p |
Software used in Production: |
ramr |
Distributor: |
DataverseNO |
Distributor: |
University of Bergen |
Access Authority: |
Nikolaienko, Oleksii |
Depositor: |
Nikolaienko, Oleksii |
Date of Deposit: |
2020-11-24 |
Holdings Information: |
https://doi.org/10.18710/ED8HSD |
Study Scope |
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Keywords: |
Computer and Information Science, Medicine, Health and Life Sciences, ramr, DNA methylation, Computational Biology, Epigenomics |
Abstract: |
<p>This data set contains all the necessary data sets (biologically-relevant simulated data sets, preprocessed public data sets) used to evaluate performance and obtain results using <i>ramr</i> (<a href="https://github.com/BBCG/ramr">https://github.com/BBCG/ramr</a>, <a href="http://www.bioconductor.org/packages/ramr/">http://www.bioconductor.org/packages/ramr/</a>) - a new method for identification of aberrantly methylated regions (AMRs). All the necessary R scripts that were used for preparation, testing and analysis of data sets are also provided. For additional information please check <i>ramr</i> package README.md file, vignettes or reference citation.</p> <p></p><p><b>Please use TREE VIEW to browse files efficiently</b></p> |
<p></p><p><b>Abstract</b></p> <p>With recent advances in the field of epigenetics, the focus is widening from large and frequent disease- or phenotype-related methylation signatures to rare alterations transmitted mitotically or transgenerationally (constitutional epimutations). Merging evidence indicate that such constitutional alterations, albeit occurring at a low mosaic level, may confer risk of disease later in life. Given their inherently low incidence rate and mosaic nature, there is a need for bioinformatic tools specifically designed to analyse such events.</p> <p>We have developed a method (<i>ramr</i>) to identify aberrantly methylated DNA regions (AMRs). <i>ramr</i> can be applied to methylation data obtained by array or next-generation sequencing techniques to discover AMRs being associated with elevated risk of cancer as well as other diseases. We assessed accuracy and performance metrics of <i>ramr</i> and confirmed its applicability for analysis of large public data sets. Using <i>ramr</i> we identified aberrantly methylated regions that are known or may potentially be associated with development of colorectal cancer and provided functional annotation of AMRs that arise at early developmental stages.</p> |
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Kind of Data: |
program source code |
Kind of Data: |
machine-readable data |
Kind of Data: |
machine-readable text |
Methodology and Processing |
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Sources Statement |
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Data Access |
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Other Study Description Materials |
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Related Materials |
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<a href="http://www.bioconductor.org/packages/devel/bioc/src/contrib/ramr_1.1.2.tar.gz"><i>ramr</i> package code, version 1.1.2</a> |
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Related Studies |
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<a href="https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE105018">GSE105018</a>: Whole blood DNA methylation profiles in participants of the Environmental Risk (E-Risk) Longitudinal Twin Study at age 18. |
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<a href="https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE51032">GSE51032</a>: This Series contains data from 845 participants (188 men and 657 women) in the EPIC-Italy cohort that was produced at the Human Genetics Foundation (HuGeF) in Turin, Italy. |
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<a href="https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE98149">GSE98149</a>: Reprogramming of H3K9me3-dependent heterochromatin during mammalian early embryo development [ChIP-seq]. |
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<a href="https://portal.gdc.cancer.gov/projects/TCGA-COAD">TCGA-COAD</a>: The Cancer Genome Atlas Colon Adenocarcinoma data. |
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Related Publications |
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Citation |
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Title: |
<p>Oleksii Nikolaienko, Per Eystein Lønning, Stian Knappskog, <i>ramr</i>: an R/Bioconductor package for detection of rare aberrantly methylated regions, Bioinformatics, 2021;, btab586</p> |
Identification Number: |
10.1093/bioinformatics/btab586 |
Bibliographic Citation: |
<p>Oleksii Nikolaienko, Per Eystein Lønning, Stian Knappskog, <i>ramr</i>: an R/Bioconductor package for detection of rare aberrantly methylated regions, Bioinformatics, 2021;, btab586</p> |
Citation |
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Title: |
<p><i>ramr</i>: an R package for detection of rare aberrantly methylated regions. Oleksii Nikolaienko, Per Eystein Lønning, Stian Knappskog. bioRxiv 2020.12.01.403501</p> |
Identification Number: |
10.1101/2020.12.01.403501 |
Bibliographic Citation: |
<p><i>ramr</i>: an R package for detection of rare aberrantly methylated regions. Oleksii Nikolaienko, Per Eystein Lønning, Stian Knappskog. bioRxiv 2020.12.01.403501</p> |
Other Reference Note(s) |
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https://github.com/BBCG/ramr |
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http://www.bioconductor.org/packages/ramr/ |
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File Description--f86831 |
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File: results-5-1000.results.tab |
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Notes: |
UNF:6:Jb8LIc18+DBR9OX2xWFcXQ== |
File Description--f101253 |
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File: REVISION-SIMULATED-results-5-1000.results.tab |
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Notes: |
UNF:6:v552E9gD4TbKA1rHJX8rRg== |
List of Variables: |
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Summary Statistics: Valid 193.0; StDev 0.2677379902580225; Max. 1.0; Mean 0.8931108352547239; Min. 0.00680065794403194; Variable Format: numeric Notes: UNF:6:36jzLiS17SYr83r9338s7g== |
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Label: |
00-README.txt |
Text: |
The README file |
Notes: |
text/plain |
Label: |
GSE105018.data.Rdata |
Text: |
An R data file containing the following objects: 1. geo.ranges: a GRanges object containing beta values for 430802 CpGs across 1658 samples from GSE105018 Illumina HumanMethylation 450 data set (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE105018). 2. sample.info: a list containing sample metadata for all samples in the GSE105018 data set. 3. sample.ids: a character vector of sample IDs. |
Notes: |
application/gzip |
Label: |
GSE51032.data.Rdata |
Text: |
An R data file containing the following objects: 1. geo.ranges: a GRanges object containing beta values for 485512 CpGs across 845 samples from GSE51032 Illumina HumanMethylation 450 data set (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE51032). This data set was used as a template to create simulated test data sets. 2. sample.info: a list containing sample metadata for all samples in the GSE51032 data set. 3. sample.ids: a character vector of sample IDs. |
Notes: |
application/gzip |
Label: |
GRCh37.p13.2019.12.12.Rdata |
Text: |
An R data file containing GRanges object with all the gene coordinates from GRCh37 annotation. |
Notes: |
application/gzip |
Label: |
GRCh38.p13.2020.08.10.Rdata |
Text: |
An R data file containing GRanges object with all the gene coordinates from GRCh38 annotation. |
Notes: |
application/gzip |
Label: |
to.remove.RData |
Text: |
An R data file containing character vector with all polymorphic and non-specific Illumina HumanMethylation 450 probe IDs. |
Notes: |
application/gzip |
Label: |
hg19ToMm9.over.chain |
Text: |
human hg19 to mouse mm9 liftover chain. Required for R/PoC.results.GSE105018.R. |
Notes: |
application/octet-stream |
Label: |
mouse.embryonic.marks.tar.gz |
Text: |
LOLA database containing information on mouse embryonic chromatin marks. Required for R/PoC.results.GSE105018.R. Ungzip before using. |
Notes: |
application/gzip |
Label: |
results-5-1000.Rdata |
Text: |
An R data file with all the performance metrics obtained by R/PoC.results.SIMULATED.R. |
Notes: |
application/gzip |
Label: |
results-plots-5-1000.pdf |
Text: |
plots for performance metrics obtained by R/PoC.results.SIMULATED.R. |
Notes: |
application/pdf |
Label: |
SIMULATED-5-1000-0.025.data.Rdata |
Text: |
An R data file containing the following objects: 1. simulated.ranges: a GRanges object containing simulated beta values for 485512 CpGs across 100 samples with aberrant methylation events introduced in some of the regions. 2. modified.regions.unique: a GRanges object containing genomic ranges and sample ID for 1000 true positive unique aberrantly methylated regions. 3. modified.regions.nonunique: a GRanges object containing genomic ranges and sample ID for 3000 true positive non-unique aberrantly methylated regions. 4. delta: delta value by which CpG beta values corresponding to particular region/sample pair in "simulated.ranges" were increased or decreased. 5. merge.window: "merge.window" parameter value to use during testing. 6. min.cpgs: "min.cpgs" parameter value to use during testing. 7. sample.ids: a character vector of sample IDs. |
Notes: |
application/gzip |
Label: |
SIMULATED-5-1000-0.050.data.Rdata |
Text: |
An R data file which is similar to "data∕SIMULATED/SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.050" |
Notes: |
application/gzip |
Label: |
SIMULATED-5-1000-0.100.data.Rdata |
Text: |
An R data file which is similar to "data∕SIMULATED/SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.100" |
Notes: |
application/gzip |
Label: |
SIMULATED-5-1000-0.250.data.Rdata |
Text: |
An R data file which is similar to "data∕SIMULATED/SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.250" |
Notes: |
application/gzip |
Label: |
SIMULATED-5-1000-0.500.data.Rdata |
Text: |
An R data file which is similar to "data∕SIMULATED/SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.500" |
Notes: |
application/gzip |
Label: |
writer-plots-5-1000.pdf |
Text: |
Methylation profiles of eight random genomic regions from the GSE51032 template data set (“GSE51032”) together with the methylation profiles of the same regions in each of five simulated test data sets obtained by changing beta values within those regions for a subset of samples (highlighted) by a particular delta (“delta=0.025”, “0.050”, “0.100”, “0.250” or “0.500”). |
Notes: |
application/pdf |
Label: |
files.2019-10-10.json |
Text: |
JSON file containing information on all Illumina Human Methylation 450 assay results in TCGA. |
Notes: |
application/json |
Label: |
TCGA-COAD.tcga.data.Rdata |
Text: |
An R data file containing the following objects: 1. tcga.data: an object containing beta values for 487192 CpGs across 192 samples from TCGA-COAD Illumina HumanMethylation 450 data set (https://portal.gdc.cancer.gov/). This data set was used to find epimutations undergoing positive selection during carcinogenesys. |
Notes: |
application/gzip |
Label: |
tcga.coad.AMRs.Rdata |
Text: |
An R data file containing the following objects: 1. tcga.coad.ranges: GRanges object with TCGA-COAD subset of methylation beta values for adjacent and tumour tissue pairs. 2. tcga.coad.ramr.hg19: GRanges object with aberrantly methylated regions found in adjacent TCGA-COAD tissue samples. |
Notes: |
application/gzip |
Label: |
PoC.results.GSE105018.R |
Text: |
an R script to reproduce all findings from GSE105018 data set. |
Notes: |
type/x-r-syntax |
Label: |
PoC.results.GSE51032.R |
Text: |
an R script to reproduce all findings from GSE51032 data set. |
Notes: |
type/x-r-syntax |
Label: |
PoC.results.SIMULATED.R |
Text: |
an R script that evaluates method performance for ramr and other methods across all test scenarios. NB that some methods (e.g. comb-p) are slow, thus modern hardware and parallelism is advised. As comb-p uses at least four threads by default, it was forced to run in a single threaded mode by limiting "processes" parameter of multiprocessing.pool.Pool call to "1" in comb-p sorce code (cpv/_common.py). |
Notes: |
type/x-r-syntax |
Label: |
PoC.results.TCGA-COAD.R |
Text: |
an R script that finds all aberantly methylated regions in a subset of adjacent tissue samples from TCGA-COAD. |
Notes: |
type/x-r-syntax |
Label: |
PoC.writer.SIMULATED.R |
Text: |
an R script that generates simulated test data sets using GSE51032 as a template. |
Notes: |
type/x-r-syntax |
Label: |
REVISION-SIMULATED-5-1000-0.025.data.Rdata |
Text: |
An R data file generated by revision/R/REVISION-performance-metrics.R and containing the following objects: 1. simulated.ranges: a GRanges object containing simulated beta values for 485512 CpGs across 100 samples with aberrant methylation events introduced in some of the regions. 2. modified.regions.unique: a GRanges object containing genomic ranges and sample ID for 1000 true positive unique aberrantly methylated regions. 3. modified.regions.nonunique: a GRanges object containing genomic ranges and sample ID for 3000 true positive non-unique aberrantly methylated regions. 4. modified.regions.noise: a GRanges object containing genomic ranges and sample ID for 1000 single-base aberrations. 5. delta: delta value by which CpG beta values corresponding to particular region/sample pair in "simulated.ranges" were increased or decreased. 6. merge.window: "merge.window" parameter value to use during testing. 7. min.cpgs: "min.cpgs" parameter value to use during testing. 8. sample.ids: a character vector of sample IDs. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-5-1000-0.050.data.Rdata |
Text: |
An R data file which is similar to "revision∕data/REVISION-SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.050". File was generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-5-1000-0.100.data.Rdata |
Text: |
An R data file which is similar to "revision∕data/REVISION-SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.100". File was generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-5-1000-0.250.data.Rdata |
Text: |
An R data file which is similar to "revision∕data/REVISION-SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.250". File was generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-5-1000-0.500.data.Rdata |
Text: |
An R data file which is similar to "revision∕data/REVISION-SIMULATED-5-1000-0.025.data.Rdata", but was generated using "delta=0.500". File was generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-plots-5-1000.pdf |
Notes: |
application/pdf |
Label: |
REVISION-SIMULATED-results-5-1000.Rdata |
Text: |
An R data file with all the performance metrics obtained by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/gzip |
Label: |
REVISION-SIMULATED-suppl-plots-5-1000.pdf |
Text: |
plots for performance metrics generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/pdf |
Label: |
REVISION-SIMULATED-suppl-table-5-1000.pdf |
Text: |
top results generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/pdf |
Label: |
REVISION-SIMULATED-suppl-time-5-1000.pdf |
Text: |
time plot generated by revision/R/REVISION-performance-metrics.R. |
Notes: |
application/pdf |
Label: |
REVISION-algorithm-diagram.R |
Text: |
an R script that builds ramr flowchart |
Notes: |
type/x-r-syntax |
Label: |
REVISION-dataset-similarity.R |
Text: |
an R script that compares template and simulated data sets |
Notes: |
type/x-r-syntax |
Label: |
REVISION-LOLA-bootstrap.R |
Text: |
an R script that checks LOLA analysis specificity |
Notes: |
type/x-r-syntax |
Label: |
REVISION-performance-metrics.R |
Text: |
an R script that generates simulated test data sets using GSE51032 as a template and evaluates method performance for ramr and other methods across all test scenarios. NB that some methods (e.g. comb-p) are slow, thus modern hardware and parallelism is advised. As comb-p uses at least four threads by default, it was forced to run in a single threaded mode by limiting "processes" parameter of multiprocessing.pool.Pool call to "1" in comb-p sorce code (cpv/_common.py). |
Notes: |
type/x-r-syntax |
Label: |
REVISION-ramr-dmrcate.R |
Text: |
an R script that compares ramr and DMRcate across various random seeds |
Notes: |
type/x-r-syntax |