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lucia.pena.perez@scilifelab.se committed Nov 1, 2023
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Expand Up @@ -56,7 +56,7 @@ The pipeline is built using [Nextflow](https://www.nextflow.io/) and processes d

#### Salmon

([`Salmon`](https://salmon.readthedocs.io/en/latest/)) quantifies reads.
[`Salmon`](https://salmon.readthedocs.io/en/latest/) quantifies reads.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -73,7 +73,7 @@ The pipeline is built using [Nextflow](https://www.nextflow.io/) and processes d

#### STAR

([`STAR`](https://github.com/alexdobin/STAR)) aligns reads to the genome reference. For further reading and documentation see the [STAR manual](https://physiology.med.cornell.edu/faculty/skrabanek/lab/angsd/lecture_notes/STARmanual.pdf).
[`STAR`](https://github.com/alexdobin/STAR) aligns reads to the genome reference. For further reading and documentation see the [STAR manual](https://physiology.med.cornell.edu/faculty/skrabanek/lab/angsd/lecture_notes/STARmanual.pdf).

<details markdown="1">
<summary>Output files</summary>
Expand Down Expand Up @@ -109,7 +109,7 @@ Outputs boht junction tracks and bigwig files. For wigToBigWig [`UCSC wigToBigWi

#### DROP

([`DROP`](https://github.com/gagneurlab/drop/)) is a pipleine that detects aberrant expression, aberrant spliceing, and monoallelic expression. For the time being, aberrant expression and aberrant splicing modules are run. Afterwards another script is run to filter results.
[`DROP`](https://github.com/gagneurlab/drop/) is a pipleine that detects aberrant expression, aberrant spliceing, and monoallelic expression. For the time being, aberrant expression and aberrant splicing modules are run. Afterwards another script is run to filter results.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -124,7 +124,7 @@ Outputs boht junction tracks and bigwig files. For wigToBigWig [`UCSC wigToBigWi

#### StringTie

([`StringTie`](https://ccb.jhu.edu/software/stringtie/)) will perform guided transcript assembly.
[`StringTie`](https://ccb.jhu.edu/software/stringtie/) will perform guided transcript assembly.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -138,7 +138,7 @@ Outputs boht junction tracks and bigwig files. For wigToBigWig [`UCSC wigToBigWi

#### GffCompare

([`GffCompare`] (https://github.com/gpertea/gffcompare)) annotates stringtie results with the reference marking them each transcript as normal or aberrant.
[`GffCompare`](https://github.com/gpertea/gffcompare) annotates stringtie results with the reference marking them each transcript as normal or aberrant.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -156,7 +156,7 @@ Outputs boht junction tracks and bigwig files. For wigToBigWig [`UCSC wigToBigWi

#### Mpileups

([`BCFtools Mpileups`](https://samtools.github.io/bcftools/bcftools.html#mpileup)) SNV calling. Default SNV caller.
[`BCFtools Mpileups`](https://samtools.github.io/bcftools/bcftools.html#mpileup) SNV calling. Default SNV caller.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -170,8 +170,8 @@ Outputs boht junction tracks and bigwig files. For wigToBigWig [`UCSC wigToBigWi

#### GATK best practices SNV Calling

([`GATK best practices SNV Calling`](https://gatk.broadinstitute.org/hc/en-us/articles/360035531192-RNAseq-short-variant-discovery-SNPs-Indels-)) SNV calling will only be activated by setting parameter variant_caller
to "gatk". Involves several steps: ([`SplitN Cigar Reads`](https://gatk.broadinstitute.org/hc/en-us/articles/360036858811-SplitNCigarReads)), ([`Haplotype Caller`](https://gatk.broadinstitute.org/hc/en-us/articles/360037225632-HaplotypeCaller)), ([`Variant Filtration`](https://gatk.broadinstitute.org/hc/en-us/articles/360037434691-VariantFiltration)) and ([`BCFtools stats`](https://samtools.github.io/bcftools/bcftools.html#stats)).
[`GATK best practices SNV Calling`](https://gatk.broadinstitute.org/hc/en-us/articles/360035531192-RNAseq-short-variant-discovery-SNPs-Indels-) SNV calling will only be activated by setting parameter variant_caller
to "gatk". Involves several steps: [`SplitN Cigar Reads`](https://gatk.broadinstitute.org/hc/en-us/articles/360036858811-SplitNCigarReads), [`Haplotype Caller`](https://gatk.broadinstitute.org/hc/en-us/articles/360037225632-HaplotypeCaller), [`Variant Filtration`](https://gatk.broadinstitute.org/hc/en-us/articles/360037434691-VariantFiltration) and [`BCFtools stats`](https://samtools.github.io/bcftools/bcftools.html#stats).

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -187,11 +187,11 @@ to "gatk". Involves several steps: ([`SplitN Cigar Reads`](https://gatk.broadins

#### ASEReadCounter

([`ASEReadCounter`](https://gatk.broadinstitute.org/hc/en-us/articles/360037428291-ASEReadCounter)) allele Specific Read Counter.
[`ASEReadCounter`](https://gatk.broadinstitute.org/hc/en-us/articles/360037428291-ASEReadCounter) allele Specific Read Counter.

#### BootstrapAnn

([`BootstrapAnn`](https://github.com/J35P312/BootstrapAnn#bootstrapann)) detects expression imbalance between alleles.
[`BootstrapAnn`](https://github.com/J35P312/BootstrapAnn#bootstrapann) detects expression imbalance between alleles.

<details markdown="1">
<summary>Output files</summary>
Expand All @@ -205,7 +205,7 @@ to "gatk". Involves several steps: ([`SplitN Cigar Reads`](https://gatk.broadins

#### VEP

([`VEP`](https://github.com/Ensembl/ensembl-vep)) annotates vcfs.
[`VEP`](https://github.com/Ensembl/ensembl-vep) annotates vcfs.

<details markdown="1">
<summary>Output files</summary>
Expand Down Expand Up @@ -235,7 +235,7 @@ to "gatk". Involves several steps: ([`SplitN Cigar Reads`](https://gatk.broadins

#### Picard CollectRnaSeqMetrics

([`Picard CollectRnaSeqMetrics`](https://broadinstitute.github.io/picard/)) alignment QC
[`Picard CollectRnaSeqMetrics`](https://broadinstitute.github.io/picard/) alignment QC

<details markdown="1">
<summary>Output files</summary>
Expand Down

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