Pascal Grobecker
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View article: Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice
Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice Open
Whole genome sequencing (WGS) improves childhood cancer diagnosis, enabling precision treatment. However, timely clinical decisions are made within days, while WGS clinical reports using current technologies and workflows, can exceed 6 wee…
View article: Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice
Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice Open
Background Whole Genome Sequencing (WGS) enhances paediatric cancer diagnosis and management compared with standard molecular assays. However, its clinical utility could be further improved by reducing the National Health Service England (…
View article: A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data Open
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identif…
View article: Identifying cell states in single-cell RNA-seq data at statistically maximal resolution
Identifying cell states in single-cell RNA-seq data at statistically maximal resolution Open
Single-cell RNA sequencing (scRNA-seq) has become a popular experimental method to study variation of gene expression within a population of cells. However, obtaining an accurate picture of the diversity of distinct gene expression states …
View article: A dedicated caller for<i>DUX4</i>rearrangements from whole-genome sequencing data
A dedicated caller for<i>DUX4</i>rearrangements from whole-genome sequencing data Open
Rearrangements involving the DUX4 gene ( DUX4- r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident ident…
View article: Identifying cell states in single-cell RNA-seq data at statistically maximal resolution
Identifying cell states in single-cell RNA-seq data at statistically maximal resolution Open
Single-cell RNA sequencing (scRNA-seq) has become a popular experimental method to study variation of gene expression within a population of cells. However, obtaining an accurate picture of the diversity of distinct gene expression states …
View article: Temporal and sequential transcriptional dynamics define lineage shifts in corticogenesis
Temporal and sequential transcriptional dynamics define lineage shifts in corticogenesis Open
The cerebral cortex contains billions of neurons, and their disorganization or misspecification leads to neurodevelopmental disorders. Understanding how the plethora of projection neuron subtypes are generated by cortical neural stem cells…
View article: Temporal and sequential transcriptional dynamics define lineage <i>shifts in corticogenesis</i>
Temporal and sequential transcriptional dynamics define lineage <i>shifts in corticogenesis</i> Open
The cerebral cortex contains billions of neurons, and their disorganization or misspecification leads to neurodevelopmental disorders. Understanding how the plethora of projection neuron subtypes are generated by cortical neural stem cells…
View article: Tead transcription factors differentially regulate cortical development
Tead transcription factors differentially regulate cortical development Open
Neural stem cells (NSCs) generate neurons of the cerebral cortex with distinct morphologies and functions. How specific neuron production, differentiation and migration are orchestrated is unclear. Hippo signaling regulates gene expression…