Germline Genomics

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If you use plots from MultiQC in a publication or presentation, please cite:

MultiQC: Summarize analysis results for multiple tools and samples in a single report
Philip Ewels, Måns Magnusson, Sverker Lundin and Max Käller
Bioinformatics (2016)
doi: 10.1093/bioinformatics/btw354
PMID: 27312411

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Germline Genomics

A Variant Calling pipeline, implemented in Nextflow and part of the Online Pipelines Platform (OPP).

Pipeline overview

Our OPĀ² germline genomics pipeline is a bioinformatics analysis workflow used for whole genome, whole-exome and targeted DNA sequencing data. It allows you to analyze your DNA sequencing data using this gold standard analysis pipeline. You get insights into the quality of your data, identify small to large nucleotide and structural variation and annotate with biological knowledge.

The workflow processes raw data from FastQ inputs, aligns the reads, calls variants and performs variant annotation. These results are made available to you via two interactive reports, and a data package with all essential intermediate files to perform more in-depth data analysis. The pre-processing workflow processes your raw sequence data until QC approved aligned data. Next, the post-processing workflow enables you to review the biological meaning of your data via data annotation.

See the pipeline page for a more detailed overview.

Do you have any question about these results? Just email us at helpdesk@biscglobal.com

Report info

Generated on
2021-06-28, 07:29
Report
Post-processing Report
Experiment
c270fbf1-3d3b-4f3a-9d6a-370f08baf215
Step
mapping
Wet Lab
whole_exome
Target BED
s3://op2-experiments-5b5d6147-94a0-4101-a021-2afbf58279d3/c270fbf1-3d3b-4f3a-9d6a-370f08baf215/supporting_files/target.bed
Species
homo_sapiens
Reference Build
GRCh38
Nucleotides/s
1000.0
Skip MarkDuplicates
False
Fastq trim
Fastq trim selected
Trim R1
0 bp
Trim R2
0 bp
Trim 3' R1
0 bp
Trim 3' R2
0 bp
NextSeq Trim
0 bp
snpEff DB
GRCh38.86
VEP cache version
99

General Statistics

Showing 6/6 rows and 3/3 columns.
Sample NameChange rateTs/TvM Variants
FreeBayes_AA_snpEff
106020
2.165
0.03
HaplotypeCaller_AA.g_snpEff
133256
0.000
2.15
HaplotypeCaller_AA_snpEff
181358
2.260
0.02
Manta_AA.diploidSV_snpEff
70937528
0.000
0.00
Strelka_AA_variants_snpEff
43137
1.993
0.07
TIDDIT_AA_snpEff
9548945
0.000
0.00

SnpEff

SnpEff is a genetic variant annotation and effect prediction toolbox. It annotates and predicts the effects of variants on genes (such as amino acid changes).

Variants by Genomic Region

The stacked bar plot shows locations of detected variants in the genome and the number of variants for each location.

The upstream and downstream interval size to detect these genomic regions is 5000bp by default.

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Variant Effects by Impact

The stacked bar plot shows the putative impact of detected variants and the number of variants for each impact.

There are four levels of impacts predicted by SnpEff:

  • High: High impact (like stop codon)
  • Moderate: Middle impact (like same type of amino acid substitution)
  • Low: Low impact (ie silence mutation)
  • Modifier: No impact
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Variants by Effect Types

The stacked bar plot shows the effect of variants at protein level and the number of variants for each effect type.

This plot shows the effect of variants with respect to the mRNA.

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Variants by Functional Class

The stacked bar plot shows the effect of variants and the number of variants for each effect type.

This plot shows the effect of variants on the translation of the mRNA as protein. There are three possible cases:

  • Silent: The amino acid does not change.
  • Missense: The amino acid is different.
  • Nonsense: The variant generates a stop codon.
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Variant Qualities

The line plot shows the quantity as function of the variant quality score.

The quality score corresponds to the QUAL column of the VCF file. This score is set by the variant caller.

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Software Versions

Software versions are collected at run time from the software output.

freebayes
v1.3.2-dirty
gatk
4.1.7.0
manta
1.6.0
nextflow
21.04.1
opp-variant-calling-dna
1.0
picard
2.21.9
samtools
1.11
snpeff
4.3t
strelka
2.9.10
tiddit
2.12.0
vep
99.2