Anna Lyander
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View article: Long-read genome sequencing enhances diagnostics of pediatric neurological disorders
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders Open
Background Singleton short-read genome sequencing (GS) is increasingly used as a first-line genetic test for childhood neurological disorders (such as intellectual disability, neurodevelopmental delay, motor delay, and hypotonia) with diag…
View article: The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation
The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation Open
Background As clinical genetics evolves towards the broader field of clinical genomics, the diagnostic approach to rare diseases is undergoing a paradigm shift. This transformation has significantly impacted rare disease diagnostics, incre…
View article: Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel Open
Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validate…
View article: NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment
NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment Open
Next-generation sequencing (NGS) has been increasingly popular in genomics studies over the last decade and is now commonly used in clinical applications for precision diagnostics. Many disease areas typically involve different kinds of sa…
View article: Updating the approaches to define susceptibility and resistance to anti-tuberculosis agents: implications for diagnosis and treatment
Updating the approaches to define susceptibility and resistance to anti-tuberculosis agents: implications for diagnosis and treatment Open
Inappropriately high breakpoints have resulted in systematic false-susceptible AST results to anti-TB drugs. MIC, PK/PD and clinical outcome data should be combined when setting breakpoints to minimise the emergence and spread of antimicro…