Dear all,
Do you know any website able to give me clinical interpretation based on NGS data?
Thank you in advance
Nazanin
5 answers
Did you try pubmed? Or OMIM?
So you want to just upload the NGS data and get a complete clinical interpretation? Don't dream of that. We're not there yet.
I know one company (and there will be many more) which offers a service like that: http://www.diploid.com/
(I'm not affiliated to that company)
if you talk about SNVs you can have a glimpse into it by 1) downloading dbSNP and parsing your data 2) download PharmGKB data and parse your data from there too
this will give you a glimpse into what variants do in disease and how they associate with drug treatments
If you are starting with a VCF file and some known HPO phenotypes (http://human-phenotype-ontology.github.io/) plus possibly a PED file for the family structure, you could try Exomiser to prioritise the variants http://www.sanger.ac.uk/science/tools/exomiser.
There is an online version at http://www.sanger.ac.uk/resources/software/exomiser/submit/.
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Be more specific. What type of data for a start?
We have 5 answers for a question that has no usable details :-)
I do not think the question should have received that much of answers without the OP not specifying what is meant by NGS data here, it is a generic global term and it is impossible for anyone to understand what is actually the OP is asking for. It would be nice if the OP can narrow down to what type of clinical NGS data is looking for then more detailed and counter-productive comments and answer can be provided. The question is like stating "What color goat is your favorite goat?" . I am not trying to be offensive but rather if a more detailed query is provided not only suitable answers will be provided but down the line other people might also be benefitted apart from the OP.
@nazanin: Would help to look at this thread (section on "Fundamentals of asking the right question") before you modify your question above/ask a new one How To Ask Good Questions On Technical And Scientific Forums