https://blog.ambrygen.com/list/category/Novel%20Genes Find the latest Ambry Genetics news by category: Novel Genes en https://blog.ambrygen.com/list/category/Novel%20Genes https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/358/pioneering-new-research-to-support-rare-disease-patients-and-families Dr. Elizabeth Chao explains how Ambry's collaboration with PacBio to participate in the GREGoR Consortium to unlock the mysteries of the genome. Thu, 10 Oct 24 08:02:00 -0700 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/355/tclr-revisiting-an-innovative-method-for-mismatch-repair-variant-classification Jessie Gryzbowski describes Ambry's novel method to accurately classify alterations in mismatch repair (MMR) genes​ ​by incorporating a tumor characteristic likelihood ratio (TCLR) into the variant assessment framework Wed, 03 Jul 24 06:57:00 -0700 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/335/10-ways-genetic-laboratories-can-support-the-rare-disease-community A top-ten list of ways laboratories can contribute to progress in identifying and treating rare disease for the more than 300 million people suffering from more than 6,000 rare disease worldwide. Thu, 29 Feb 24 03:00:00 -0800 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/336/from-awareness-to-action-supporting-rare-disease-today-and-everyday For Rare Disease Day, a list of patient advocacy groups dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them. Mon, 26 Feb 24 03:00:00 -0800 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/322/understanding-gene-disease-validity-in-breast-cancer-the-power-of-evidence An overview of gene-disease validity in the context of breast cancer, which affects approximately 1 in every 8 women. Tue, 17 Oct 23 04:07:00 -0700 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/308/meet-the-gene-team-jeni-herrera-mullar-mgc-cgc-dma-presents-the-gene-of-the-month-msh3 Jeni Herrera-Mullar, MGC, CGC, DMA, Principal Clinical Scientist at Ambry Genetics, explains gene-disease validity and how the science of gene curation has changed over time and introduces the gene of the month MSH3. Tue, 11 Apr 23 01:58:00 -0700 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/304/meet-the-gene-team-bess-wayburn-phd-cgc-presents-the-gene-of-the-month-sptbn1 Meet the Gene team highlights one member of the Ambry team each month and they then introduce a newly categorized gene and explain how the knowledge affects patients. Thu, 02 Mar 23 01:08:00 -0800 Ambry Genetics Ambry Blog Novel Genes https://blog.ambrygen.com/ambry/post/197/how-to-build-a-smarter-panel Ambry's smart approach to gene classification allows us to deliver reports with less ambiguity and more definitive results Fri, 30 Jun 17 15:43:00 -0700 Ambry Genetics Ambry Blog Novel Genes 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 Novel Genes 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 Novel Genes