mapping pipeline Search Results


arima genomics mapping pipeline  (Arima Genomics Inc)
96
Arima Genomics Inc arima genomics mapping pipeline
Arima Genomics Mapping Pipeline, supplied by Arima Genomics Inc, used in various techniques. Bioz Stars score: 96/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/Mapping+Pipeline/bio_rxiv__64898__2026__05__20__726494-182-15-15
Average 96 stars, based on 1 article reviews
arima genomics mapping pipeline - by Bioz Stars, 2026-10
96/100 stars
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best practices pipeline for quality control and mapping of human sequencing data  (Broad Institute Inc)
90
Broad Institute Inc best practices pipeline for quality control and mapping of human sequencing data
Best Practices Pipeline For Quality Control And Mapping Of Human Sequencing Data, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/best+practices+pipeline+for+quality+control+and+mapping+of+human+sequencing+data/10__1128_slash_mbio__01224___19-160-18-12
Average 90 stars, based on 1 article reviews
best practices pipeline for quality control and mapping of human sequencing data - by Bioz Stars, 2026-10
90/100 stars
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optical genome mapping rare variant pipeline  (BioNano Genomics)
90
BioNano Genomics optical genome mapping rare variant pipeline
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Optical Genome Mapping Rare Variant Pipeline, supplied by BioNano Genomics, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/optical+genome+mapping+rare+variant+pipeline/pmc10971281-45-9-8
Average 90 stars, based on 1 article reviews
optical genome mapping rare variant pipeline - by Bioz Stars, 2026-10
90/100 stars
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topography and pipeline, and sewer shed maps  (Tetra Tech Inc)
90
Tetra Tech Inc topography and pipeline, and sewer shed maps
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Topography And Pipeline, And Sewer Shed Maps, supplied by Tetra Tech Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/topography+and+pipeline++and+sewer+shed+maps/pm34872175-59-17-11
Average 90 stars, based on 1 article reviews
topography and pipeline, and sewer shed maps - by Bioz Stars, 2026-10
90/100 stars
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mapping_pipeline  (myDATA GmbH)
90
myDATA GmbH mapping_pipeline
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Mapping Pipeline, supplied by myDATA GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/mapping+pipeline/pmc03922791__1471___2164___15___68___S4-23-47-23
Average 90 stars, based on 1 article reviews
mapping_pipeline - by Bioz Stars, 2026-10
90/100 stars
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mapping_pipeline.sh  (myDATA GmbH)
90
myDATA GmbH mapping_pipeline.sh
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Mapping Pipeline.Sh, supplied by myDATA GmbH, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/mapping+pipeline+sh/pmc03922791__1471___2164___15___68___S4-22-27-29
Average 90 stars, based on 1 article reviews
mapping_pipeline.sh - by Bioz Stars, 2026-10
90/100 stars
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connectivity map (cmap) computational pipeline  (Broad Institute Inc)
90
Broad Institute Inc connectivity map (cmap) computational pipeline
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Connectivity Map (Cmap) Computational Pipeline, supplied by Broad Institute Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/connectivity+map++cmap++computational+pipeline/pmc07680901-27-6-13
Average 90 stars, based on 1 article reviews
connectivity map (cmap) computational pipeline - by Bioz Stars, 2026-10
90/100 stars
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mapping urban pipeline leaks  (Philips Healthcare)
86
Philips Healthcare mapping urban pipeline leaks
Bioinformatics workflow for structural <t>variant</t> detection and integration of whole <t>genome</t> sequencing, <t>optical</t> genome <t>mapping,</t> and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.
Mapping Urban Pipeline Leaks, supplied by Philips Healthcare, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/mapping+pipeline/leaks+mapping+pipeline+urban/pm33938736__es0c07531_si_001-176-6-3
Average 86 stars, based on 1 article reviews
mapping urban pipeline leaks - by Bioz Stars, 2026-10
86/100 stars
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Image Search Results


Bioinformatics workflow for structural variant detection and integration of whole genome sequencing, optical genome mapping, and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.

Journal: Journal of Personalized Medicine

Article Title: Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection

doi: 10.3390/jpm14030291

Figure Lengend Snippet: Bioinformatics workflow for structural variant detection and integration of whole genome sequencing, optical genome mapping, and RNA-Seq: SVs from both WGS, OGM, and RNA-Seq are detected and filtered using the individual subroutines depicted in the dotted boxes. High-confidence calls are merged together, and further filtering is applied to remove germline polymorphisms and SV calls from control datasets. The remaining calls represent likely somatic SVs and SNVs. Note that in the absence of germline controls for these individuals, true somatic calls cannot be fully determined, and we are limited by the comprehensiveness of the control datasets that are available from healthy control populations. A detailed explanation is provided in Material and Methods.

Article Snippet: Aneuploidy is reported as a result of the Bionano optical genome mapping rare variant pipeline based on coverage over a certain region with events as small as 380 kb being detectable.

Techniques: Variant Assay, Sequencing, RNA Sequencing, Control

OGM complex rearrangement not reported by DELLY in a Hispanic individual: W13: ( A ) t(7;9) inverted translocation causing a PAX5::AUTS2 fusion event. Blue and yellow lines represent DLE-1 labeled areas on the patient OGM map or the reference chromosomes; grey lines indicate the patient map as it aligns to the reference genome. ( B ) The same individual carries a t(7;8) translocation causing juxtaposing FGFR1 and AUTS2 but in opposite orientations and ultimately not leading to a gene fusion. Both rearrangements were detected with the OGM rare variant pipeline (RVP). The pink area on the OGM map indicates a small unalignable junction between the breakpoints. ( C ) Circos plot view of the t(7;8) and t(7;9) translocations. Track labels are as follows from outside to inside: chromosome number, cytoband, gene regions, SV (blue = deletion, red = insertion, pink = inversion, green = duplication), copy number, translocations.

Journal: Journal of Personalized Medicine

Article Title: Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection

doi: 10.3390/jpm14030291

Figure Lengend Snippet: OGM complex rearrangement not reported by DELLY in a Hispanic individual: W13: ( A ) t(7;9) inverted translocation causing a PAX5::AUTS2 fusion event. Blue and yellow lines represent DLE-1 labeled areas on the patient OGM map or the reference chromosomes; grey lines indicate the patient map as it aligns to the reference genome. ( B ) The same individual carries a t(7;8) translocation causing juxtaposing FGFR1 and AUTS2 but in opposite orientations and ultimately not leading to a gene fusion. Both rearrangements were detected with the OGM rare variant pipeline (RVP). The pink area on the OGM map indicates a small unalignable junction between the breakpoints. ( C ) Circos plot view of the t(7;8) and t(7;9) translocations. Track labels are as follows from outside to inside: chromosome number, cytoband, gene regions, SV (blue = deletion, red = insertion, pink = inversion, green = duplication), copy number, translocations.

Article Snippet: Aneuploidy is reported as a result of the Bionano optical genome mapping rare variant pipeline based on coverage over a certain region with events as small as 380 kb being detectable.

Techniques: Translocation Assay, Labeling, Variant Assay