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

• 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 and 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_monogenic_diseases.tsv
  • Ensembl
    Harbors information about human genes.
    • 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
  • OMIM
    Contains a file that has information about different heritable conditions, and another file has the information that corresponds to monogenic diseases.
    • genemap2.txt
    • gene_filtered_phenENS.txt
• scripts
  Has the scripts that were used through this project.
  • ObtencionSecuencias.R
  • alineamiento.sh
  • get_monogenic_disease_data.sh

Results