Søren Vang

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients

Søren Lejsted Faergeman, Lotte Andreasen, Naja Becher, Mette Christiansen et autres

As part of the Danish National Genome Centre (DNGC) initiative, the Central Denmark Region has implemented short-read whole-genome sequencing (srWGS) as a first-tier diagnostic tool for suspected monogenetic disorders. Despite increasing adoption of genome sequencing, evidence from large-scale implementation across clinical specialties …

dk (code pays fourni par la source)

Recommendations for bioinformatics in clinical practice

Ksenia Lavrichenko, Emilie Sofie Engdal, Rasmus L. Marvig, Anders Jemt et autres

BACKGROUND: Next-generation sequencing (NGS) is well established in clinical diagnostics, and whole-genome sequencing (WGS) is increasingly becoming the method of choice, as a result of lower prices and robust comprehensive data. While guidelines exist for variant interpretation and laboratory quality considerations, there …

no, dk, se, fi, is, nl (code pays fourni par la source)

Short-Read Genome Sequencing at Population Scale: Diagnostic Insights From 2,317 Patients

Soren L. Faergeman, Lotte Andreasen, Naja Becher, Mette Christiansen et autres

Abstract Introduction : As part of the Danish National Genome Centre (DNGC) initiative, the Central Denmark Region has implemented short-read whole genome sequencing (srWGS) as a first-tier diagnostic tool for suspected monogenetic disorders. Despite increasing adoption of genome sequencing, evidence from large-scale …

dk (code pays fourni par la source)

Deep targeted sequencing of circulating tumor DNA to inform treatment in patients with metastatic castration-resistant prostate cancer

Maibritt Nørgaard, Maria Rusan, Karoline Kondrup, Ea Marie Givskov Sørensen et autres

BACKGROUND: Intrinsic and acquired resistance to second-generation anti-androgens pose a significant clinical challenge in the treatment of metastatic castration-resistant prostate cancer (mCRPC). Novel biomarkers to predict treatment response and inform alternative treatment options are urgently needed. METHODS: Deep targeted sequencing, with a …

dk, se, be (code pays fourni par la source)

Recommendations for Bioinformatics in Clinical Practice

Ksenia Lavrichenko, Emilie Sofie Engdal, Rasmus L. Marvig, Anders Jemt et autres

Abstract Next Generation Sequencing (NGS) is increasingly used in clinical diagnostics, largely driven by the success and robustness of Whole Genome Sequencing (WGS). Whereas updated guidelines exist for how to interpret and report on variants that are identified from NGS using bioinformatics …

no, dk, se, fi, is, nl (code pays fourni par la source)

Author response: circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

us, dk (code pays fourni par la source)

circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Circular RNAs represent a class of endogenous RNAs that regulate gene expression and influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of large genomics datasets and …

us, dk (code pays fourni par la source)

Author response: circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Circular RNAs (circRNAs) represent a class of widespread endogenous RNAs that regulate gene expression and thereby influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of large …

dk, us (code pays fourni par la source)

circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Abstract Circular RNAs (circRNAs) represent a class of widespread endogenous RNAs that regulate gene expression and thereby influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of …

dk, us (code pays fourni par la source)

Author response: circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Circular RNAs (circRNAs) represent a class of widespread endogenous RNAs that regulate gene expression and thereby influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of large …

dk (code pays fourni par la source)

Reviewer #1 (Public Review): circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Circular RNAs (circRNAs) represent a class of widespread endogenous RNAs that regulate gene expression and thereby influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of large …

Reviewer #2 (Public Review): circHIPK3 nucleates IGF2BP2 and functions as a competing endogenous RNA

Trine Line Hauge Okholm, Andreas Bjerregaard Kamstrup, Morten Muhlig Nielsen, Anne Kruse Hollensen et autres

Circular RNAs (circRNAs) represent a class of widespread endogenous RNAs that regulate gene expression and thereby influence cell biological decisions with implications for the pathogenesis of several diseases. Here, we disclose a novel gene-regulatory role of circHIPK3 by combining analyses of large …