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AI synopsis
The discussions demonstrate strong interest and technical engagement, highlighted by phrases like 'comprehensive detection' and mentions of new sequencing platforms like 'Revio.' The tone suggests that the community views this research as an important technical step forward, with words like 'high accuracy' and 'systematic' emphasizing potential significance, though some comments maintain a cautious tone about immediate impact.
Most posts recognize the significance of the research, with some explicitly endorsing its accuracy and advances in mutation detection.
Discussions consistently highlight curiosity about the new sequencing technology and potential applications.
Posts contain technical details, such as mentions of specific methods like 'de novo mutations' and 'high coverage trios,' indicating deep engagement.
While some posts suggest the research could influence future studies, limited direct claims of immediate impact result in a moderate impact score.
Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant levels! Just the start to many more HiFi genomes - especially with our new Revio…@radboudumc @GeneticNijmegen https://t.co/Y8OAngw1m2
Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https://t.co/F3w7u5Ea2v
Comprehensive de novo mutation discovery with HiFi long-read sequencing. #DeNovoMutations #SNVs #SVs #HiFi #LongRead @PacBio #Sequencing #LRS @GenomeMedicine https://t.co/HwOSGxzpkE
In this article from @gilissenc and @ahoischen, the authors evaluate the ability of #HiFisequencing to detect de novo mutations. The results show HiFi sequencing is capable of calling de novo mutations on all known variant levels with high accuracy. https://t.co/WHCWH4jCby https://t.co/fogXNvtYKg
#ASHG23 Hoischen: HiFi genomes (on Revio), Tier 2, unsolved mysteries. Case 1: severe sporadic disease, dysmorphic (hypertelorism). May 2023 paper: https://t.co/lSvdsekrjG 4 de novo "BND-calls" Chr 2 had a del-ins mutation. "Rainbow Reads" resolved. 90kb inserted.
Come and see our great postdoc @Bart_vd_S explain details of our recent study https://t.co/IhG1pShXmw https://t.co/tkI5YeWByW
This video explores how PacBio HiFi long-read sequencing improves the detection of de novo mutations compared to traditional methods, highlighting high concordance rates and advancements in genetic research.
#ASHG23 Hoischen: HiFi genomes (on Revio), Tier 2, unsolved mysteries. Case 1: severe sporadic disease, dysmorphic (hypertelorism). May 2023 paper: https://t.co/lSvdsekrjG 4 de novo "BND-calls" Chr 2 had a del-ins mutation. "Rainbow Reads" resolved. 90kb inserted.
In this article from @gilissenc and @ahoischen, the authors evaluate the ability of #HiFisequencing to detect de novo mutations. The results show HiFi sequencing is capable of calling de novo mutations on all known variant levels with high accuracy. https://t.co/WHCWH4jCby https://t.co/fogXNvtYKg
Here is also a link to our manuscript: https://t.co/F3w7u5Ea2v
Come and see our great postdoc @Bart_vd_S explain details of our recent study https://t.co/IhG1pShXmw https://t.co/tkI5YeWByW
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
Comprehensive de novo mutation discovery with HiFi long-read sequencing https://t.co/rEJneJKcxh https://t.co/SSYhZYnUrC
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
PacBio: Comprehensive de novo mutation discovery with HiFi long-read sequencing https://t.co/8ey3Ck1m4Q
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
Comprehensive de novo mutation discovery with HiFi long-read sequencing. #DeNovoMutations #SNVs #SVs #HiFi #LongRead @PacBio #Sequencing #LRS @GenomeMedicine https://t.co/HwOSGxzpkE
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @Bart_vd_S: Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https:…
Happy to share our manuscript on the comprehensive detection using HiFi long-read sequencing! #HiFi #longread #denovo https://t.co/F3w7u5Ea2v
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
RT @ahoischen: Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant le…
Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant levels! Just the start to many more HiFi genomes - especially with our new Revio…@radboudumc @GeneticNijmegen https://t.co/Y8OAngw1m2