Anna Leinfelt

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

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, increasingly done through gene panels, whole exome and whole genome sequencing. …

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Additional file 2 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Additional file 2: Table S1: Intellectual Disability; Table S2: Neuromuscular, ataxia and spastic paraplegia disorders; Table S3: Inherited cancer; Table S4: Connective Tissue Disease; Table S5: Neurodegenerative disorders; Table S6: Skeletal dysplasia disorders; Table S7: Inherited cardiac conditions; Table S8: Non-immune hydrops …

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The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Abstract 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, increasingly done through gene panels, whole exome and whole genome …

se (code pays fourni par la source)

Additional file 1 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Additional file 1: Figure S1. Steps performed in the nf-core rare disease pipeline; Figure S2. Variant scoring and prioritization with Genmod; Figure S3: Rank score performance over time.

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Additional file 1 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Additional file 1: Figure S1. Steps performed in the nf-core rare disease pipeline; Figure S2. Variant scoring and prioritization with Genmod; Figure S3: Rank score performance over time.

se (code pays fourni par la source)

Additional file 2 of The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Additional file 2: Table S1: Intellectual Disability; Table S2: Neuromuscular, ataxia and spastic paraplegia disorders; Table S3: Inherited cancer; Table S4: Connective Tissue Disease; Table S5: Neurodegenerative disorders; Table S6: Skeletal dysplasia disorders; Table S7: Inherited cardiac conditions; Table S8: Non-immune hydrops …

se (code pays fourni par la source)

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, Malin Kvarnung et autres

Abstract 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, increasingly done through gene panels, whole exome and whole genome …

se (code pays fourni par la source)

The Genomic Medicine Center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

Anna Lindstrand, Kristina Lagerstedt‐Robinson, Anders Jemt, Malin Kvarnung et autres

se (code pays fourni par la source)

Clinical genomics: next generation sequencing for clinical diagnostics

Rikard Erlandsson, Emma Sernstad, Robin Andeer, Sofie Sobie et autres