https://blog.ambrygen.com/list/category/Mendelian%20diseases Find the latest Ambry Genetics news by category: Mendelian diseases en https://blog.ambrygen.com/list/category/Mendelian%20diseases https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/332/ambry-collaborations-with-genematcher-help-further-disease-gene-discovery-and-improve-diagnostic-rates Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery. Tue, 30 Jan 24 03:51:00 -0800 Ambry Genetics Ambry Blog Mendelian diseases https://blog.ambrygen.com/ambry/post/192/improve-patient-care-by-reducing-ambiguity-in-gene-disease-relationships Ambry's latest research formalizes a methodology for determining if a gene-disease relationship is clinically valid, reducing ambiguity and improving test results. Wed, 07 Jun 17 14:20:00 -0700 Ambry Genetics Ambry Blog Mendelian diseases https://blog.ambrygen.com/ambry/post/3/exome-sequencing-provides-more-coverage-than-you-think New research suggests that whole exome sequencing (WES) offers similar base pair coverage to MGPT for Mendelian diseases. Thu, 02 Feb 17 13:35:00 -0800 Ambry Genetics Ambry Blog Mendelian diseases