Skip to content

Commit

Permalink
Add sort tool, improve filter tool, docs #4
Browse files Browse the repository at this point in the history
  • Loading branch information
antonylebechec committed Jan 19, 2025
1 parent 5b8ed60 commit aacb5da
Show file tree
Hide file tree
Showing 31 changed files with 44,244 additions and 42,861 deletions.
Binary file modified README.pdf
Binary file not shown.
1 change: 1 addition & 0 deletions RELEASE_NOTES.html
Original file line number Diff line number Diff line change
Expand Up @@ -205,6 +205,7 @@ <h3 data-number="1.1.1" id="news"><span
<li>New tools:
<ul>
<li>Tool &#x2018;filter&#x2019; to filter variants in SQL format and samples</li>
<li>Tool &#x2018;sort&#x2019; to sort variants from contig order</li>
</ul></li>
<li>Plugins:
<ul>
Expand Down
1 change: 1 addition & 0 deletions RELEASE_NOTES.md
Original file line number Diff line number Diff line change
Expand Up @@ -22,6 +22,7 @@ and transcripts mapping.
(Integer, Float, String) with list type (defined in VCF header)
- New tools:
- Tool 'filter' to filter variants in SQL format and samples
- Tool 'sort' to sort variants from contig order
- Plugins:
- 'to_excel': Convert VCF to Excel '.xlsx' format

Expand Down
Binary file modified RELEASE_NOTES.pdf
Binary file not shown.
Binary file modified docs/docs.pdf
Binary file not shown.
Binary file modified docs/help.configuration.calculation.pdf
Binary file not shown.
Binary file modified docs/help.configuration.pdf
Binary file not shown.
Binary file modified docs/help.configuration.prioritization.pdf
Binary file not shown.
504 changes: 283 additions & 221 deletions docs/help.html

Large diffs are not rendered by default.

202 changes: 132 additions & 70 deletions docs/help.md
Original file line number Diff line number Diff line change
Expand Up @@ -15,111 +15,115 @@ title: HOWARD Help
options](#main-options-1)
- [<span class="toc-section-number">3.2</span> Filters](#filters)
- [<span class="toc-section-number">3.3</span> Export](#export-1)
- [<span class="toc-section-number">4</span> STATS tool](#stats-tool)
- [<span class="toc-section-number">4</span> SORT tool](#sort-tool)
- [<span class="toc-section-number">4.1</span> Main
options](#main-options-2)
- [<span class="toc-section-number">4.2</span> Stats](#stats)
- [<span class="toc-section-number">5</span> CONVERT
tool](#convert-tool)
- [<span class="toc-section-number">4.2</span> Export](#export-2)
- [<span class="toc-section-number">5</span> STATS tool](#stats-tool)
- [<span class="toc-section-number">5.1</span> Main
options](#main-options-3)
- [<span class="toc-section-number">5.2</span> Explode](#explode-1)
- [<span class="toc-section-number">5.3</span> Export](#export-2)
- [<span class="toc-section-number">6</span> HGVS tool](#hgvs-tool)
- [<span class="toc-section-number">5.2</span> Stats](#stats)
- [<span class="toc-section-number">6</span> CONVERT
tool](#convert-tool)
- [<span class="toc-section-number">6.1</span> Main
options](#main-options-4)
- [<span class="toc-section-number">6.2</span> HGVS](#hgvs)
- [<span class="toc-section-number">7</span> ANNOTATION
tool](#annotation-tool)
- [<span class="toc-section-number">6.2</span> Explode](#explode-1)
- [<span class="toc-section-number">6.3</span> Export](#export-3)
- [<span class="toc-section-number">7</span> HGVS tool](#hgvs-tool)
- [<span class="toc-section-number">7.1</span> Main
options](#main-options-5)
- [<span class="toc-section-number">7.2</span>
Annotation](#annotation)
- [<span class="toc-section-number">8</span> CALCULATION
tool](#calculation-tool)
- [<span class="toc-section-number">7.2</span> HGVS](#hgvs)
- [<span class="toc-section-number">8</span> ANNOTATION
tool](#annotation-tool)
- [<span class="toc-section-number">8.1</span> Main
options](#main-options-6)
- [<span class="toc-section-number">8.2</span>
Calculation](#calculation)
- [<span class="toc-section-number">8.3</span> NOMEN](#nomen)
- [<span class="toc-section-number">8.4</span> TRIO](#trio)
- [<span class="toc-section-number">8.5</span>
BARCODEFAMILY](#barcodefamily)
- [<span class="toc-section-number">9</span> PRIORITIZATION
tool](#prioritization-tool)
Annotation](#annotation)
- [<span class="toc-section-number">9</span> CALCULATION
tool](#calculation-tool)
- [<span class="toc-section-number">9.1</span> Main
options](#main-options-7)
- [<span class="toc-section-number">9.2</span>
Prioritization](#prioritization)
- [<span class="toc-section-number">10</span> PROCESS
tool](#process-tool)
Calculation](#calculation)
- [<span class="toc-section-number">9.3</span> NOMEN](#nomen)
- [<span class="toc-section-number">9.4</span> TRIO](#trio)
- [<span class="toc-section-number">9.5</span>
BARCODEFAMILY](#barcodefamily)
- [<span class="toc-section-number">10</span> PRIORITIZATION
tool](#prioritization-tool)
- [<span class="toc-section-number">10.1</span> Main
options](#main-options-8)
- [<span class="toc-section-number">10.2</span> HGVS](#hgvs-1)
- [<span class="toc-section-number">10.3</span>
- [<span class="toc-section-number">10.2</span>
Prioritization](#prioritization)
- [<span class="toc-section-number">11</span> PROCESS
tool](#process-tool)
- [<span class="toc-section-number">11.1</span> Main
options](#main-options-9)
- [<span class="toc-section-number">11.2</span> HGVS](#hgvs-1)
- [<span class="toc-section-number">11.3</span>
Annotation](#annotation-1)
- [<span class="toc-section-number">10.4</span>
- [<span class="toc-section-number">11.4</span>
Calculation](#calculation-1)
- [<span class="toc-section-number">10.5</span>
- [<span class="toc-section-number">11.5</span>
Prioritization](#prioritization-1)
- [<span class="toc-section-number">10.6</span> Query](#query-1)
- [<span class="toc-section-number">10.7</span> Explode](#explode-2)
- [<span class="toc-section-number">10.8</span> Export](#export-3)
- [<span class="toc-section-number">11</span> DATABASES
- [<span class="toc-section-number">11.6</span> Query](#query-1)
- [<span class="toc-section-number">11.7</span> Explode](#explode-2)
- [<span class="toc-section-number">11.8</span> Export](#export-4)
- [<span class="toc-section-number">12</span> DATABASES
tool](#databases-tool)
- [<span class="toc-section-number">11.1</span> Main
options](#main-options-9)
- [<span class="toc-section-number">11.2</span> Genomes](#genomes)
- [<span class="toc-section-number">11.3</span> snpEff](#snpeff)
- [<span class="toc-section-number">11.4</span> Annovar](#annovar)
- [<span class="toc-section-number">11.5</span> refSeq](#refseq)
- [<span class="toc-section-number">11.6</span> dbNSFP](#dbnsfp)
- [<span class="toc-section-number">11.7</span>
- [<span class="toc-section-number">12.1</span> Main
options](#main-options-10)
- [<span class="toc-section-number">12.2</span> Genomes](#genomes)
- [<span class="toc-section-number">12.3</span> snpEff](#snpeff)
- [<span class="toc-section-number">12.4</span> Annovar](#annovar)
- [<span class="toc-section-number">12.5</span> refSeq](#refseq)
- [<span class="toc-section-number">12.6</span> dbNSFP](#dbnsfp)
- [<span class="toc-section-number">12.7</span>
AlphaMissense](#alphamissense)
- [<span class="toc-section-number">11.8</span> Exomiser](#exomiser)
- [<span class="toc-section-number">11.9</span> dbSNP](#dbsnp)
- [<span class="toc-section-number">11.10</span> HGMD](#hgmd)
- [<span class="toc-section-number">11.11</span>
- [<span class="toc-section-number">12.8</span> Exomiser](#exomiser)
- [<span class="toc-section-number">12.9</span> dbSNP](#dbsnp)
- [<span class="toc-section-number">12.10</span> HGMD](#hgmd)
- [<span class="toc-section-number">12.11</span>
from_Annovar](#from_annovar)
- [<span class="toc-section-number">11.12</span>
- [<span class="toc-section-number">12.12</span>
from_extann](#from_extann)
- [<span class="toc-section-number">11.13</span>
- [<span class="toc-section-number">12.13</span>
Parameters](#parameters)
- [<span class="toc-section-number">12</span> GUI tool](#gui-tool)
- [<span class="toc-section-number">13</span> HELP tool](#help-tool)
- [<span class="toc-section-number">13.1</span> Main
options](#main-options-10)
- [<span class="toc-section-number">14</span> UPDATE_DATABASE
tool](#update_database-tool)
- [<span class="toc-section-number">13</span> GUI tool](#gui-tool)
- [<span class="toc-section-number">14</span> HELP tool](#help-tool)
- [<span class="toc-section-number">14.1</span> Main
options](#main-options-11)
- [<span class="toc-section-number">14.2</span>
Update_database](#update_database)
- [<span class="toc-section-number">14.3</span> Options](#options)
- [<span class="toc-section-number">15</span> TO_EXCEL
tool](#to_excel-tool)
- [<span class="toc-section-number">15</span> UPDATE_DATABASE
tool](#update_database-tool)
- [<span class="toc-section-number">15.1</span> Main
options](#main-options-12)
- [<span class="toc-section-number">15.2</span> Add](#add)
- [<span class="toc-section-number">16</span> TRANSCRIPTS_CHECK
tool](#transcripts_check-tool)
- [<span class="toc-section-number">15.2</span>
Update_database](#update_database)
- [<span class="toc-section-number">15.3</span> Options](#options)
- [<span class="toc-section-number">16</span> TO_EXCEL
tool](#to_excel-tool)
- [<span class="toc-section-number">16.1</span> Main
options](#main-options-13)
- [<span class="toc-section-number">17</span> GENEBE tool](#genebe-tool)
- [<span class="toc-section-number">16.2</span> Add](#add)
- [<span class="toc-section-number">17</span> TRANSCRIPTS_CHECK
tool](#transcripts_check-tool)
- [<span class="toc-section-number">17.1</span> Main
options](#main-options-14)
- [<span class="toc-section-number">17.2</span> GeneBe](#genebe)
- [<span class="toc-section-number">17.3</span> Explode](#explode-3)
- [<span class="toc-section-number">17.4</span> Export](#export-4)
- [<span class="toc-section-number">18</span> MINIMALIZE
tool](#minimalize-tool)
- [<span class="toc-section-number">18</span> GENEBE tool](#genebe-tool)
- [<span class="toc-section-number">18.1</span> Main
options](#main-options-15)
- [<span class="toc-section-number">18.2</span>
Minimalize](#minimalize)
- [<span class="toc-section-number">18.3</span> Explode](#explode-4)
- [<span class="toc-section-number">18.2</span> GeneBe](#genebe)
- [<span class="toc-section-number">18.3</span> Explode](#explode-3)
- [<span class="toc-section-number">18.4</span> Export](#export-5)
- [<span class="toc-section-number">19</span> Shared
- [<span class="toc-section-number">19</span> MINIMALIZE
tool](#minimalize-tool)
- [<span class="toc-section-number">19.1</span> Main
options](#main-options-16)
- [<span class="toc-section-number">19.2</span>
Minimalize](#minimalize)
- [<span class="toc-section-number">19.3</span> Explode](#explode-4)
- [<span class="toc-section-number">19.4</span> Export](#export-6)
- [<span class="toc-section-number">20</span> Shared
arguments](#shared-arguments)

# Introduction
Expand Down Expand Up @@ -392,6 +396,64 @@ Usage examples:
</small>

# SORT tool

Sort genetic variations from contig order. Data can be loaded into
'variants' table from various formats (e.g. VCF, TSV, Parquet...). SQL
filter can also use external data within the request, such as a Parquet
file(s).

Usage examples:

> howard sort --input=tests/data/example.vcf.gz
> --output=/tmp/example.sorted.vcf.gz
>
## Main options

<small>

> --input=<input> | required
>
> Input file path.
> Format file must be either VCF, Parquet, TSV, CSV, PSV or duckDB.
> Files can be compressesd (e.g. vcf.gz, tsv.gz).
</small>

<small>

> --output=<output> | required
>
> Output file path.
> Format file must be either VCF, Parquet, TSV, CSV, PSV or duckDB.
> Files can be compressesd (e.g. vcf.gz, tsv.gz).
</small>

## Export

<small>

> --include_header
>
> Include header (in VCF format) in output file.
> Only for compatible formats (tab-delimiter format as TSV or BED).
</small>

<small>

> --parquet_partitions=<parquet partitions>
>
> Parquet partitioning using hive (available for any format).
> This option is faster parallel writing, but memory consuming.
> Use 'None' (string) for NO partition but split parquet files into a folder.
> Examples: '#CHROM', '#CHROM,REF', 'None'.
</small>

# STATS tool

Statistics on genetic variations, such as: number of variants, number of
Expand Down
Binary file modified docs/help.parameters.databases.pdf
Binary file not shown.
Binary file modified docs/help.parameters.pdf
Binary file not shown.
Binary file modified docs/help.pdf
Binary file not shown.
Loading

0 comments on commit aacb5da

Please sign in to comment.