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@@ -740,12 +740,33 @@
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numbering("1.1", ..numbers.pos().slice(1))
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}
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})
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-
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+#set list(marker: [---])
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#heading(level: 1, outlined: false)[Whole Genome Sequencing Report]
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#outline(title: "Table of Contents", depth: 3)
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#pagebreak()
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-== Identity
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+
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+== Interprétation
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+#v(0.5cm)
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+
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+#let scoped-content = {
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+
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+ show heading: it => {
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+ set text(font: "FreeSans", size: 14pt)
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+ align(left, it)
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+ v(5pt)
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+ }
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+
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+ cmarker.render(
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+ read(sys.inputs.base + "/diag/report/" + sys.inputs.id + "_conclusion.md"), h1-level: 4,
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+ )
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+}
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+
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+#scoped-content
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+
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+#pagebreak()
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+
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+== Sample identity
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#sys.inputs.id
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== Alignement
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@@ -779,14 +800,6 @@
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)
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]
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-=== Coverage by chromosome
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-==== Proportion at given depth by chromosome
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-#reportCoverage(sys.inputs.base + "/diag/report/data/scan/" + sys.inputs.id)
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-#set footnote(numbering: n => {
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- " "
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-})
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-#footnote[Values computed by Pandora development version]
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-
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== Variants
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=== Variants calling
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#pagebreak()
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@@ -831,6 +844,11 @@
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#pagebreak()
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=== Selected Variants
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+==== Classification
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+- Pathogenic: experimentally proved that the variant participate in the oncogenic process.
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+- Likely pathogenic: gene or variant that could be linked to the oncogenic process in bibliography.
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+- Unknown significance: somatic variant without more information.
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+
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==== Pathogenics
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#variants(
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sys.inputs.base + "/diag/report/data/" + sys.inputs.id + "_annot_variants.json",
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@@ -843,16 +861,37 @@
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interpretation: "PROBPATHO",
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)
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-==== Variants of uncertain significance
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+==== Variants of Unknown Significance
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#variants(
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sys.inputs.base + "/diag/report/data/" + sys.inputs.id + "_annot_variants.json",
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interpretation: "US",
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)
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-#pagebreak()
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-== Conclusion
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-#v(0.5cm)
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+== Coverage by chromosome
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+=== Proportion at given depth by chromosome
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+#reportCoverage(sys.inputs.base + "/diag/report/data/scan/" + sys.inputs.id)
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+#set footnote(numbering: n => {
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+ " "
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+})
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+#footnote[Values computed by Pandora development version]
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-#cmarker.render(
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- read(sys.inputs.base + "/diag/report/" + sys.inputs.id + "_conclusion.md"),
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-)
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+== Method
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+=== Sample preparation and sequencing
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++ DNA sampling and collection in EDTA tubes.
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++ Buffy coat: pooling of multiple EDTA tubes then centrifugation (1200 rpm 10 minutes).
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++ DNA extraction according to Maxwell® Promega RSC Buffy Coat DNA Kit.
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++ Nanodrop DNA quantification.
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++ DNA shearing: 3µg of DNA mechanically sheared by Covaris g-TUBE (8000 rpm, 1 minute).
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++ DNA size qualification aiming a median of 10 kb determined by TapeStation.
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++ Libary was constructed following the Oxford Nanopore Technologies Ligation Sequencing Kit V14 (SQK-LSK114) protocol with 1.5 µg as input DNA.
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++ Qubit quantification
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++ After evaluation of flowcell (rev 10) for pore availability (> 6000 available pores). Two distinct barcoded libraries were pooled for each flowcell.
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++ sequencing run was initiated and controlled using MinKNOW software (sequencing 80 hours, data output format: Raw pod5 files).
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+
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+=== Bioinformatic analysis
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++ Orchestration and global analysis realized by in-house software (source code is accessible at Github).
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++ Basecalling and alignment: dorado v0.8.2 with parameters "sup,5mC_5hmC --trim all" with alignment on hs1 genome (T2T chm13v2.0).
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++ Variant calling was realized with ClairS v0.4.0, DeepVariant v1.6.1, DeepSomatic v1.7.0, Nanomonsv v0.7.2.
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++ Variants filtering and merging done with in-house software.
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++ Annotation: ensembl-VEP 112 with gene features defined by RefSeq Liftoff v5.1. SNP from gnomAD_4-2022_10 and Cosmic v99.
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++ Interpretation and report generation performed on a local web service also published in open source.
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