To find sample size in OMIM database
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6.5 years ago

Where to find the number of tested human samples for each gene in OMIM database?

OMIM • 1.3k views
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6.5 years ago

Hey friend,

I don't believe that this number will be recorded anywhere. The OMIM database entries are based on published literature, each one of which may be based on a varying number of samples.

For example, if I look up the OMIM entry '# 604370 - BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1' (link), there are countless studies cited in the entry description, each of which will have been based on a varying number of samples. For this particular term, I see 96 citations. For the entry on just the BRCA1 gene, I see 181 citations. Technically speaking, you'd have to go through each citation if you wanted to tabulate the number of samples.

For more detailed information, I recommend contacting OMIM.

Kevin

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atleast is there anyway to find the sources of patient?.. https://www.ncbi.nlm.nih.gov/books/NBK208639/box/ch4.box1/?report=objectonly please check this link and can you tell us whether we can get for all gene ids??

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You will have to help me understand what this is(?) - I see ~2,500 patients mentioned on that age.

To get the number of patients for each OMIM study, I am confident that you will have to look at each study individually. Othewise, contact OMIM (the group that curates the website) and ask them if they record this information (I do not believe that they record it).

Kevin

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