@@ -11,35 +11,42 @@ Here we display all the data and scripts used in order to answer one of the most
**Which is the proportion of diseases that are caused due to afections in coding and non coding regions?**
## Folder content
-*alignments*
- Grsphs
Has plots that show the proportion of coding and non-coding sequences of Monogenic Diseases.
- Grafica1.png
- Grafica2.png
-<ins>*alignments*</ins>
Contains the resultant files of aligning the secuences from genes of interest (that cause a monogenis disease) to the human genome.
- sequences_aligned_A.bam
- sequences_aligned_A.sam
- sequences_aligned_A_sort.bam
-*data*
-<ins>*data*</ins>
-*DISEASES DB*
Stores one of the databases use for the project and a file that has all the information of the monogenic diseases contained within it.
Stores one of the databases use for the project, a file that has all the information of the monogenic diseases contained within it.
- human_disease_textmining_full.tsv
- merge_list_monogenic_diseases.tsv
- merge_list_monogenic_diseases.tsv (list of genes form "merge_monogenic_diseases.tsv")
- merge_monogenic_diseases.tsv
-*Ensembl*
Harbors information about human genes.
Harbors the following information about human genes: Gene start (bp); Gene end (bp); Gene type; Gene name; Strand; Protein stable ID
- mart_export_v2.txt
-*Homo_sapiens*
Includes human genome sequence and it's annotation.
- Homo_sapiens.GRCh38.100.gff3.gz
- Homo_sapiens.GRCh38.dna.alt.fa.gz
- Homo_sapiens.GRCh38.100.gff3.gz (annotation)
- Homo_sapiens.GRCh38.dna.alt.fa.gz (sequence)
-*OMIM*
Contains a file that has information about different heritable conditions, and another file has the information that corresponds to monogenic diseases.
- genemap2.txt
Contains a file that has information about different heritable conditions and that was was filtered to get what corresponds to monogenic diseases.
- gene_filtered_phenENS.txt
-*scripts*
-<ins>*scripts*</ins>
Has the scripts that were used through this project.
- CambioCol.R
- ObtencionSecuencias.R
- ObtenciondeAllData.R
- alineamiento.sh
- get_monogenic_disease_data.sh
- get_monogenic_disease_data_DISEASES.sh
- get_monogenic_disease_data_OMIM.sh
- mapeo.R
## Results
