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Product

Data from electronic healthcare records expand our understanding of X-linked genetic diseases

Center:

TN-Vanderbilt University, UCEDD/LEND

Fiscal Year:

2024

Contact Information:

Nina Coyle
[email protected]
615-875-3186

Product Description:

Disease-specific cohort studies have reported on X-linked (XL) disorders affecting females. We investigated XL disorders in electronic health records (EHR). We found differences between the female/male (F/M) ratios for various XL disorders regardless of their OMIM annotated mode and identified four XL recessive disorders affecting women. Differences in the F/M ratios and biomarkers of XL disorders observed likely result from disease-specific and sex-dependent penetrance.

Keyword(s):

Genetic Diseases, Biomarkers, Mendelian predictions

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

To Obtain Copies (URL or Email):

[email protected]

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910

Mailing address:
PO Box 8787
Silver Spring, MD 20907-8787