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Software for RNA-Seq analysis to create sample-specific proteoform databases from RNA-Seq data

Home Page: https://smith-chem-wisc.github.io/Spritz/

License: MIT License

C# 53.85% Dockerfile 0.21% Python 45.94%
bioinformatics proteogenomics snakemake snakemake-pipeline rna-seq proteomics

spritz's People

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spritz's Issues

Improve variant combinatorics

Limited it to 5 variants per transcript for now.

  • Make these 5 heterozygous, not just 5 variants
  • Phase nearby variants

Improve applying variants

Make Interval, Marker, and IntervalAndSubInterval<T> classes like SnpEff, which have nice methods for applying variants. Interval can use SequenceRange from DotNetBio, since it's already comparable. Markers, a collection of Marker objects can be SequenceRangeGrouping, a collection of SequenceRange objects that allows intersecting and such.

The key goal here is applying SNPs, MNPs, and indels in a tidy way.

SnpEff GRCh38 version mismatches

  1. It turns out the databases that SnpEff uses are GRCh38.86, not GRCh38.81 like I've been using. Most of the transcript IDs are probably the same, but there are likely some that changed.
  2. SnpEff includes the transcript version concatenated with a . to the transcript ID for GRCh38.86 and not for GRCh37.75
  3. This really makes me want to make the program independent of that output, like I attempted at first.

Implement advanced options for RSEM and low-RAM RSEMBowtie

Defaults are probably okay, but there are some advanced options:

    --fragment-length-min <int>
        Minimum read/insert length allowed. This is also the value for the
        Bowtie/Bowtie2 -I option. (Default: 1)

    --fragment-length-max <int>
        Maximum read/insert length allowed. This is also the value for the
        Bowtie/Bowtie 2 -X option. (Default: 1000)

    --fragment-length-mean <double>
        (single-end data only) The mean of the fragment length distribution,
        which is assumed to be a Gaussian. (Default: -1, which disables use of
        the fragment length distribution)

    --fragment-length-sd <double>
        (single-end data only) The standard deviation of the fragment length
        distribution, which is assumed to be a Gaussian. (Default: 0, which
        assumes that all fragments are of the same length, given by the
        rounded value of --fragment-length-mean)

Possible install problem of STAR

The /CMD/bin/Debug/STAR file is empty after the first time setup. (Both in Orion or LEI)
Delete the STAR directory, then setup again will install STAR successfully.
Related to STARWrapper.cs Line 184.

A bug only in LEI. a /CMD/bin/Debug/bin directory contain something in /CMD/bin/Debug/bedops are not remove somehow

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