Kevin Meza Landeros

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1 # MONOGENIC DISEASES 1 # MONOGENIC DISEASES
2 -## Human Genomics 2 +## Human Genomics Project
3 3
4 Team: 4 Team:
5 - Garcia Flores Fernanda Renee 5 - Garcia Flores Fernanda Renee
...@@ -8,5 +8,32 @@ Team: ...@@ -8,5 +8,32 @@ Team:
8 - Zeferino Garcia Karla 8 - Zeferino Garcia Karla
9 9
10 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: 10 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:
11 -
12 **Which is the proportion of diseases that are caused due to afections in coding and non coding regions?** 11 **Which is the proportion of diseases that are caused due to afections in coding and non coding regions?**
12 +
13 +## Folder content
14 +- *alignments*
15 + Contains the resultant files of aligning the secuences from genes of interest (that cause a monogenis disease) to the human genome.
16 + - sequences_aligned_A.bam
17 + - sequences_aligned_A.sam
18 + - sequences_aligned_A_sort.bam
19 +- *data*
20 + - *DISEASES DB*
21 + Stores one of the databases use for the project and a file that has all the information of the monogenic diseases contained within it.
22 + - human_disease_textmining_full.tsv
23 + - merge_list_monogenic_diseases.tsv
24 + - merge_monogenic_diseases.tsv
25 + - *Ensembl*
26 + Harbors information about human genes.
27 + - mart_export_v2.txt
28 + - *Homo_sapiens*
29 + Includes human genome sequence and it's annotation.
30 + - Homo_sapiens.GRCh38.100.gff3.gz
31 + - Homo_sapiens.GRCh38.dna.alt.fa.gz
32 + - *OMIM*
33 + Contains a file that has information about different heritable conditions, and another file has the information that corresponds to monogenic diseases.
34 + - genemap2.txt
35 +- *scripts*
36 + Has the scripts that were used through this project.
37 + - ObtencionSecuencias.R
38 + - alineamiento.sh
39 + - get_monogenic_disease_data.sh
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