Was The Data For The Clinseq Snp Project Obtained From Patients Or General Population?

Question

[biomedicineman1]

SNP database from 1000G or NHLBI projects are based on general population, or presumably "healthy" people.

A long-time confusing question for me is, ClinSeq SNP project is based on just patients?

I look into their website, and I'm sure that the volunteers involved in the project DEFINITELY include "patients" or at least involving various types of syndromes, and in their genome research paper they also reported some rare missense mutations which they think associated with say, some abnormal cardiovascular phenotypes.

And also you can find, in dbSNP, there'll always be some rare mutations absent from 1000G/NHLBI, but present in ClinSeq.

Then my questions are: Does ClinSeq involve ONLY patients, or also involve general population? And for those rare mutations ONLY found by ClinSeq, can we view them as highly-likely deleterious or pathogenic?

Thanks!

Answer 1

[Istvan Albert]

The answer to your question is in the paper it says:

ClinSeq participants are being selected to represent the spectrum of
atherosclerotic heart disease using the Framingham score (Wilson et
al. 1998) to balance accrual

The way I read this and other information is that participants undergoing a general health screening process are recruited into the study. So the individuals in the study do have some level of affiliation with the institutions that run the study.

[biomedicineman1]

Thanks! So you also think the recruited individuals, to some extent, are "patients"? And mutations ONLY found in Clinseq can be viewed as more likely to be deleterious?

[Istvan Albert]

In the broadest sense a patient is any recipient of health care services. In that sense these are all patients. But I think they are not all patients in the sense of being sick or exhibiting any type disorder. As for your followup question I would not venture to state anything since I have not studied the paper in sufficient detail. Most information is listed in the paper in various sections.