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smoove

structural variant calling and genotyping with existing tools, but, smoothly.

https://github.com/brentp/smoove

Science Score: 54.0%

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    Low similarity (12.5%) to scientific vocabulary

Keywords

genomics lumpy structural-variation
Last synced: 4 months ago · JSON representation ·

Repository

structural variant calling and genotyping with existing tools, but, smoothly.

Basic Info
  • Host: GitHub
  • Owner: brentp
  • License: apache-2.0
  • Language: Go
  • Default Branch: master
  • Homepage:
  • Size: 2.49 MB
Statistics
  • Stars: 252
  • Watchers: 10
  • Forks: 21
  • Open Issues: 101
  • Releases: 19
Topics
genomics lumpy structural-variation
Created almost 8 years ago · Last pushed over 1 year ago
Metadata Files
Readme Changelog License Citation

README.md

smoove

Build Status

smoove simplifies and speeds calling and genotyping SVs for short reads. It also improves specificity by removing many spurious alignment signals that are indicative of low-level noise and often contribute to spurious calls.

There is a blog-post describing smoove in more detail here

It both supports small cohorts in a single command, and population-level calling with 4 total steps, 2 of which are parallel by sample.

There is a table on the precision and recall of smoove and duphold (which is used by smoove)here

It requires:

And optionally (but all highly recommended):

  • svtyper: to genotypes SVs
  • svtools: required for large cohorts
  • mosdepth: remove high coverage regions.
  • bcftools: version 1.5 or higher for VCF indexing and filtering.
  • duphold: to annotate depth changes within events and at the break-points.

Running smoove without any arguments will show which of these are found so they can be added to the PATH as needed.

smoove will:

  1. parallelize calls to lumpy_filter to extract split and discordant reads required by lumpy
  2. further filter lumpy_filter calls to remove high-coverage, spurious regions and user-specified chroms like 'hs37d5'; it will also remove reads that we've found are likely spurious signals. after this, it will remove singleton reads (where the mate was removed by one of the previous filters) from the discordant bams. This makes lumpy much faster and less memory-hungry.
  3. calculate per-sample metrics for mean, standard deviation, and distribution of insert size as required by lumpy.
  4. stream output of lumpy directly into multiple svtyper processes for parallel-by-region genotyping while lumpy is still running.
  5. sort, compress, and index final VCF.

installation

you can get smoove and all dependencies via (a large) docker image:

docker pull brentp/smoove docker run -it brentp/smoove smoove -h

Or, you can download a smoove binary from here: https://github.com/brentp/smoove/releases When run without any arguments, smoove will show you which of it's dependencies it can find so you can adjust your $PATH and install accordingly.

usage

small cohorts (n < ~ 40)

for small cohorts it's possible to get a jointly-called, genotyped VCF in a single command.

smoove call -x --name my-cohort --exclude $bed --fasta $reference_fasta -p $threads --genotype /path/to/*.bam output will go to ./my-cohort-smoove.genotyped.vcf.gz

the --exclude $bed is highly recommended as it can be used to ignore reads that overlap problematic regions.

A good set of regions for GRCh37 is here.

And for hg38 here

population calling

For population-level calling (large cohorts) the steps are:

  1. For each sample, call genotypes:

smoove call --outdir results-smoove/ --exclude $bed --name $sample --fasta $reference_fasta -p 1 --genotype /path/to/$sample.bam

For large cohorts, it's better to parallelize across samples rather than using a large $threads per sample. smoove can only parallelize up to 2 or 3 threads on a single-sample and it's most efficient to use 1 thread.

output will go to results-smoove/$sample-smoove.genotyped.vcf.gz`

  1. Get the union of sites across all samples (this can parallelize this across as many CPUs or machines as needed):

```

this will create ./merged.sites.vcf.gz

smoove merge --name merged -f $reference_fasta --outdir ./ results-smoove/*.genotyped.vcf.gz ```

  1. genotype each sample at those sites (this can parallelize this across as many CPUs or machines as needed) and run duphold to add depth annotations.

smoove genotype -d -x -p 1 --name $sample-joint --outdir results-genotped/ --fasta $reference_fasta --vcf merged.sites.vcf.gz /path/to/$sample.$bam

  1. paste all the single sample VCFs with the same number of variants to get a single, squared, joint-called file.

smoove paste --name $cohort results-genotyped/*.vcf.gz

  1. (optional) annotate the variants with exons, UTRs that overlap from a GFF and annotate high-quality heterozygotes:

smoove annotate --gff Homo_sapiens.GRCh37.82.gff3.gz $cohort.smoove.square.vcf.gz | bgzip -c > $cohort.smoove.square.anno.vcf.gz

This adds a SHQ (Smoove Het Quality) tag to every sample format) a value of 4 is a high quality call and the value of 1 is low quality. -1 is non-het. It also adds a MSHQ for Mean SHQ to the INFO field which is the mean SHQ score across all heterozygous samples for that variant.

As a first pass, users can look for variants with MSHQ > 3. If you added duphold annotations, it's also useful to check deletions with DHFFC < 0.7 and duplications with DHFFC > 1.25.

Troubleshooting

  • A panic with a message like Segmentation fault (core dumped) | bcftools view -O z -c 1 -o is likely to mean you have an old version of bcftools. see #10

  • smoove will write to the system TMPDIR. For large cohorts, make sure to set this to something with a lot of space. e.g. export TMPDIR=/path/to/big

  • smoove requires recent version of lumpy and lumpy_filter so build those from source or get the most recent bioconda version.

see also

svtools

Owner

  • Name: Brent Pedersen
  • Login: brentp
  • Kind: user
  • Location: Oregon, USA

Doing genomics

Citation (CITATION.cff) 

cff-version: 1.2.0
message: "If you use this software, please cite it as below."
authors:
  - 
    family-names: Pedersen
    given-names: Brent S.
    email: bpederse@gmail.com
  - 
    family-names: Layer
    given-names: Ryan
  - 
    family-names: Quinlan
    given-names: Aaron R.
title: "smoove: structural-variant calling and genotyping with existing tools"
version: 0.2.8
date-released: 2020-01-01
license: Apache-2.0

GitHub Events

Total
  • Issues event: 5
  • Watch event: 22
  • Issue comment event: 6
Last Year
  • Issues event: 5
  • Watch event: 22
  • Issue comment event: 6

Committers

Last synced: 8 months ago

All Time
  • Total Commits: 174
  • Total Committers: 5
  • Avg Commits per committer: 34.8
  • Development Distribution Score (DDS): 0.023
Past Year
  • Commits: 2
  • Committers: 1
  • Avg Commits per committer: 2.0
  • Development Distribution Score (DDS): 0.0
Top Committers
Name Email Commits
Brent Pedersen b****e@g****m 170
Pierre Lindenbaum 3****b 1
Joe Brown b****m@g****m 1
Dave Larson d****n@g****u 1
Brad Chapman c****b@f****m 1
Committer Domains (Top 20 + Academic)
fastmail.com: 1 genome.wustl.edu: 1

Issues and Pull Requests

Last synced: 4 months ago

All Time
  • Total issues: 138
  • Total pull requests: 1
  • Average time to close issues: 28 days
  • Average time to close pull requests: 2 minutes
  • Total issue authors: 104
  • Total pull request authors: 1
  • Average comments per issue: 3.62
  • Average comments per pull request: 0.0
  • Merged pull requests: 0
  • Bot issues: 0
  • Bot pull requests: 0
Past Year
  • Issues: 7
  • Pull requests: 0
  • Average time to close issues: N/A
  • Average time to close pull requests: N/A
  • Issue authors: 7
  • Pull request authors: 0
  • Average comments per issue: 1.57
  • Average comments per pull request: 0
  • Merged pull requests: 0
  • Bot issues: 0
  • Bot pull requests: 0
View more stats
Top Authors
Issue Authors
  • tyyiyi (5)
  • robertwhbaldwin (5)
  • lindenb (4)
  • nitha26 (3)
  • heidihyang (3)
  • cfz1998 (3)
  • Navin-techi (3)
  • C-YONG (2)
  • y1025i (2)
  • olivia-gc (2)
  • framic23 (2)
  • Saeideh-Ashouri (2)
  • sulinq (2)
  • Martaprf (2)
  • Giuseppe1995 (2)
Pull Request Authors
  • bounlu (1)
Top Labels
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Packages

  • Total packages: 1
  • Total downloads: unknown
  • Total docker downloads: 1,339
  • Total dependent packages: 0
  • Total dependent repositories: 0
  • Total versions: 20
proxy.golang.org: github.com/brentp/smoove
  • Versions: 20
  • Dependent Packages: 0
  • Dependent Repositories: 0
  • Docker Downloads: 1,339
Rankings
Dependent packages count: 7.0%
Average: 8.2%
Dependent repos count: 9.3%
Last synced: 5 months ago

Dependencies

go.mod go
  • github.com/alexflint/go-arg v1.4.2
  • github.com/biogo/biogo v1.0.3
  • github.com/biogo/hts v1.4.3
  • github.com/biogo/store v0.0.0-20201120204734-aad293a2328f
  • github.com/brentp/faidx v0.0.0-20200301150453-c39eb85760d8
  • github.com/brentp/gargs v0.3.9
  • github.com/brentp/go-athenaeum v0.0.0-20180711164918-19f838fd53de
  • github.com/brentp/go-chartjs v0.0.0-20170901194241-a37b166b7875
  • github.com/brentp/goleft v0.2.5
  • github.com/brentp/irelate v0.0.1
  • github.com/brentp/vcfgo v0.0.0-20190824021612-654ed2e5945d
  • github.com/brentp/xopen v0.0.0-20181116180855-111b45cadc7d
  • github.com/edsrzf/mmap-go v1.0.0
  • github.com/fatih/color v1.12.0
  • github.com/kyroy/kdtree v0.0.0-20200419114247-70830f883f1d
  • github.com/mattn/go-isatty v0.0.13
  • github.com/pkg/errors v0.9.1
  • github.com/valyala/fasttemplate v1.2.1
  • gonum.org/v1/gonum v0.9.3
  • gopkg.in/check.v1 v1.0.0-20201130134442-10cb98267c6c
go.sum go
  • 110 dependencies