Dear Users,
I am sorry if this thread looks too simplistic or if it contains stupid questions.
The problem is that I am a neophyte of the field.
In short: I am a clinical cardiologist, involved in the research field of inherited heart disease.
I have the duty to prepare a panel of human genes related with channelopathies and cardiomyopathies to study with NGS (Illumina technology).
Some companies, like for instance Harvard partners, have already commercialized something similar.
My questions are the follows:
1. is there any practical guidelines I could read on the matter?
2. how many genes are OK to include in the library? (the number could range from about 40 if I choose the ones with the highest yield to more than 100 if I add also rare genes or candidate genes).
My doubt is whether it is better to study few genes supported by the strongest evidence or to scan also genes for which less is know. If the price / work for a largest panel is not too high, I would like to have all the possible information from my patients.
Additionally, how much would it cost to add new genes to my library?
I imagine that also the interpretation process would be more complex, if you study a very high number of genes.
3. Is there any gene which is not good to add to the library (for instance, titin is very large and apparently hard to study)?
thanks for your suggestions and your patience.
It would be very nice for me to see an Illumina machine working, on the field.
all the best.
I am sorry if this thread looks too simplistic or if it contains stupid questions.
The problem is that I am a neophyte of the field.
In short: I am a clinical cardiologist, involved in the research field of inherited heart disease.
I have the duty to prepare a panel of human genes related with channelopathies and cardiomyopathies to study with NGS (Illumina technology).
Some companies, like for instance Harvard partners, have already commercialized something similar.
My questions are the follows:
1. is there any practical guidelines I could read on the matter?
2. how many genes are OK to include in the library? (the number could range from about 40 if I choose the ones with the highest yield to more than 100 if I add also rare genes or candidate genes).
My doubt is whether it is better to study few genes supported by the strongest evidence or to scan also genes for which less is know. If the price / work for a largest panel is not too high, I would like to have all the possible information from my patients.
Additionally, how much would it cost to add new genes to my library?
I imagine that also the interpretation process would be more complex, if you study a very high number of genes.
3. Is there any gene which is not good to add to the library (for instance, titin is very large and apparently hard to study)?
thanks for your suggestions and your patience.
It would be very nice for me to see an Illumina machine working, on the field.
all the best.
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