Kevin Meza Landeros / MonogenicDiseases

1# MONOGENIC DISEASES

Human Genomics Project

Team:

• Garcia Flores Fernanda Renee
• Meza Landeros Kevin Emmanuel
• Schafer Juarez Badillo Alejandra Nicole
• Zeferino Garcia Karla

Here we display all the data and scripts used in order to answer one of the most relevant actual questions in the field of Human Health:
Which is the proportion of diseases that are caused due to afections in coding and non coding regions?

Folder content

• Grsphs Has plots that show the proportion of coding and non-coding sequences of Monogenic Diseases.
  • Grafica1.png
  • Grafica2.png
• alignments
  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
  
  • DISEASES DB
    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 (list of genes form "merge_monogenic_diseases.tsv")
    • merge_monogenic_diseases.tsv
  • Ensembl
    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 (annotation)
    • Homo_sapiens.GRCh38.dna.alt.fa.gz (sequence)
  • OMIM
    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
  Has the scripts that were used through this project.
  • CambioCol.R
  • ObtencionSecuencias.R
  • ObtenciondeAllData.R
  • alineamiento.sh
  • get_monogenic_disease_data_DISEASES.sh
  • get_monogenic_disease_data_OMIM.sh
  • mapeo.R

Results