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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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