Terminology Help

[RoshMan]

Hey Everyone,

Sorry in advance if I posted this in the wrong thread. Anyways, I'm a high school student and am looking at some data I received from my mentor. I am trying to find out what some of these terms are and what the values mean (I have provided sample data if it helps).

Term................................Sample Data 1
AVSIFT..............................0
LJB_PhyloP........................0.997284
LJB_PhyloP_Pred.................C
LJB_SIFT...........................0.919474
LJB_SIFT_Pred....................NA
LJB_PolyPhen2...................0.562219
LJB_PolyPhen2_Pred............NA
LJB_LRT............................0.018871
LJB_LRT_Pred.....................N
LJB_MutationTaster.............1
LJB_MutationTaster_Pred......A
LJB_GERP++......................2.73

Thanks in Advance

[GenoMax]

That looks like variant annotation data: http://www.openbioinformatics.org/an...ter.html#ljb23.

What are you expected to do with this? Sort of advanced for someone in high school.

[RoshMan]

Thanks so much,

I am working with my mentor to look at mutations at occur in the DNA in individuals with various diseases such as ALS and NEC. We are looking through to find out how the mutation affects the gene and ultimately the disease.

I went through the link, but it doesn't address some of the terms. I went through the same site and found this: http://www.openbioinformatics.org/an..._download.html
and

https://wiki.uiowa.edu/download/attachments/80413422/annotation-explanation.pdf?version=1&modificationDate=1344009444367

From you link
For the MutationTester
What does it mean to be the follow?
---A" ("disease_causing_automatic")
---"D" ("disease_causing")
---"N" ("polymorphism")
---"P" ("polymorphism_automatic"

Also for the part where they say "higher scores are more deleterious", where do my values stand (as in what is the range)?

From the wiki link
What does it mean to conserved, non-conserved, tolerated, and deleterious. I know what the words mean by definition, but what do they mean in context?

Thanks once again