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Articles Tagged: Mendelian diseases
January 30, 2024
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.
Genetic Testing
Genetic Testing Accuracy
Mendelian diseases
VUS
June 7, 2017
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.
Mendelian diseases
Novel Genes
Scientific Research
Test Results
VUS
Whole Exome Sequencing
February 2, 2017
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.
Mendelian diseases
Multigene Panel Testing
Next Generation Sequencing
Novel Genes
University of California-Irvine
Whole Exome Sequencing
