Chrissy Austin-Tse
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View article: Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis Open
Background Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the added value of this technique…
View article: OP039: Best practices for the interpretation and reporting of clinical genome sequencing
OP039: Best practices for the interpretation and reporting of clinical genome sequencing Open
View article: Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis Open
Background: Alterations in electrocardiographic (ECG) intervals are well-known markers for arrhythmia and sudden cardiac death (SCD) risk. While the genetics of arrhythmia syndromes have been studied, relations between electrocardiographic…