Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine Read more about Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience Read more about Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort Read more about Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females Read more about Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females
