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De Novo Variants Predominate in Autism Spectrum Disorder Open
Background: Autism spectrum disorder (ASD) is a common condition with substantial personal and financial burdens of lifelong implication. Multiple twin studies have confirmed a genetic or inherited component at ~80%, higher than any other …
De Novo Variants Predominate in Autism Spectrum Disorder Open
Autism spectrum disorder (ASD) is a common condition with substantial personal and financial burdens of lifelong implication. Multiple twin studies have confirmed a genetic or inherited component at ~80%, higher than any other common condi…
Introducing surgical intelligence in gynecology: Automated identification of key steps in hysterectomy Open
Objective The analysis of surgical videos using artificial intelligence holds great promise for the future of surgery by facilitating the development of surgical best practices, identifying key pitfalls, enhancing situational awareness, an…
View article: Automated surgical step recognition in transurethral bladder tumor resection using artificial intelligence: transfer learning across surgical modalities
Automated surgical step recognition in transurethral bladder tumor resection using artificial intelligence: transfer learning across surgical modalities Open
Objective Automated surgical step recognition (SSR) using AI has been a catalyst in the “digitization” of surgery. However, progress has been limited to laparoscopy, with relatively few SSR tools in endoscopic surgery. This study aimed to …
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half Open
Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics and databases. We analyzed the raw DNA sequencing files on the Var…
Reanalysis of Trio Whole Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half Open
Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics and databases. We analyzed the raw DNA sequencing files on the Var…
High Sensitivity for Detection of Primary Diagnostic Variants in Autism Spectrum Disorder, Including <em>De Novo</em> Variants, with Trio Whole Genome Sequencing and Data Reanalysis Open
Autism spectrum disorder (ASD) is a common condition with lifelong implications and a strong hereditary component suggesting genetic underpinnings. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics…
High Sensitivity for Detection of Primary Diagnostic Variants in Autism, Including De Novo Variants, with Trio Whole Genome Sequencing and Data Reanalysis Open
Autism spectrum disorder (ASD) is a common condition with lifelong implications and a strong hereditary component suggesting genetic underpinnings. The last decade has seen dramatic improvements in DNA sequencing, bioinformatics, and datab…
Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings Open
Cyclic vomiting syndrome (CVS) is a frequently disabling condition defined by severe, discrete, stereotypical episodes of nausea and vomiting. In our previous report [1], a candidate gene list was evaluated in a group of 80 unrelated parti…
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction Open
Objective To utilize whole exome or genome sequencing and the scientific literature for identifying candidate genes for cyclic vomiting syndrome (CVS), an idiopathic migraine variant with paroxysmal nausea and vomiting. Methods A retrospec…
SARSNTdb database: Factors affecting SARS-CoV-2 sequence conservation Open
SARSNTdb offers a curated, nucleotide-centric database for users of varying levels of SARS-CoV-2 knowledge. Its user-friendly interface enables querying coding regions and coordinate intervals to find out the various functional and selecti…
Video Transformer Network Open
This paper presents VTN, a transformer-based framework for video recognition. Inspired by recent developments in vision transformers, we ditch the standard approach in video action recognition that relies on 3D ConvNets and introduce a met…
"Train one, Classify one, Teach one" -- Cross-surgery transfer learning for surgical step recognition Open
Prior work demonstrated the ability of machine learning to automatically recognize surgical workflow steps from videos. However, these studies focused on only a single type of procedure. In this work, we analyze, for the first time, surgic…
View article: PEDIA: Prioritization of Exome Data by Image Analysis
PEDIA: Prioritization of Exome Data by Image Analysis Open
Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Here, we introduce an approach, dri…
DeepGestalt - Identifying Rare Genetic Syndromes Using Deep Learning Open
Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical setti…