A modular tool to aggregate results from bioinformatics analyses across many samples into a single report.
Report
generated on 2023-10-23, 11:13 +03
based on data in:
/home/bar/runs/results.298674
General Statistics
Showing 3/3 rows and 11/15 columns.Sample Name | Vars | SNP | Indel | Ts/Tv | Error rate | M Non-Primary | M Reads Mapped | % Mapped | % Proper Pairs | M Total seqs | M Reads Mapped |
---|---|---|---|---|---|---|---|---|---|---|---|
U0a.bcf | 10 | 10 | 0 | 1.50 | |||||||
U0a.cram.flagstat | 4.4 | ||||||||||
U0a.cram.stats | 0.55% | 0.0 | 4.4 | 99.3% | 96.8% | 4.4 |
resources 298674 log mqc png
U0A Mqc.Html
file sizes 298674 log mqc png
Bcftools
1.18
, 1.18-14-g2c81697c
Bcftools contains utilities for variant calling and manipulating VCFs and BCFs.DOI: 10.1093/gigascience/giab008.
Variant Substitution Types
Variant Quality
Indel Distribution
Variant depths
Read depth support distribution for called variants
VEP
VEP Ensembl VEP determines the effect of your variants on genes, transcripts and protein sequences, as well as regulatory regions.DOI: 10.1186/s13059-016-0974-4.
General Statistics
Table showing general statistics of VEP annotaion run
Sample Name | Overlapped regulatory features | Overlapped transcripts | Overlapped genes | Existing variants | Novel variants | Variants filtered out | Variants processed |
---|---|---|---|---|---|---|---|
U0a_summary.html | 0 | 1 | 1 | 10 | 0 | 0 | 10 |
Variant classes
Classes of variants found in the data.
Consequences
Predicted consequences of variations.
SIFT summary
SIFT variant effect prediction.
PolyPhen summary
PolyPhen variant effect prediction.
Variants by chromosome
Number of variants found on each chromosome.
Position in protein
Relative position of affected amino acids in protein.
Samtools
1.18
, 1.18-10-g007d83e
Samtools is a suite of programs for interacting with high-throughput sequencing data.DOI: 10.1093/bioinformatics/btp352.
Percent Mapped
Alignment metrics from samtools stats
; mapped vs. unmapped reads.
For a set of samples that have come from the same multiplexed library, similar numbers of reads for each sample are expected. Large differences in numbers might indicate issues during the library preparation process. Whilst large differences in read numbers may be controlled for in downstream processings (e.g. read count normalisation), you may wish to consider whether the read depths achieved have fallen below recommended levels depending on the applications.
Low alignment rates could indicate contamination of samples (e.g. adapter sequences), low sequencing quality or other artefacts. These can be further investigated in the sequence level QC (e.g. from FastQC).
Alignment metrics
This module parses the output from samtools stats
. All numbers in millions.
Samtools Flagstat
This module parses the output from samtools flagstat
. All numbers in millions.
XY counts
Mapped reads per contig
The samtools idxstats
tool counts the number of mapped reads per chromosome / contig. Chromosomes with < 0.1% of the total aligned reads are omitted from this plot.
Software Versions
Software Versions lists versions of software tools extracted from file contents.
Group | Software | Version |
---|---|---|
Bcftools | Bcftools | 1.18, 1.18-14-g2c81697c |
Samtools | Samtools | 1.18, 1.18-10-g007d83e |
annotation_sources | 1000genomes | phase3 |
COSMIC | 97 | |
ClinVar | 202301 | |
HGMD-PUBLIC | 20204 | |
assembly | GRCh38.p14 | |
dbSNP | 154 | |
gencode | GENCODE 44 | |
genebuild | 2014.post7 | |
gnomADe | r2.1.1 | |
gnomADg | 3.1.2 | |
polyphen | 2.2.3 | |
regbuild | 1.0 | |
sift | 6.2.1 | |
bedtools | bedtools | 2.31.0 |
bwa | bwa | 0.7.17-r1198-dirty |
ensembl-vep | ensembl-vep | 110.1 |
fastp | fastp | 0.23.4 |
oneliner | oneliner | 1.0.0 |