Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data
Abstract Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting e...
| Published in: | Scientific Reports |
|---|---|
| Main Authors: | Apurba Shil, Liron Levin, Hava Golan, Gal Meiri, Analya Michaelovski, Yair Sadaka, Adi Aran, Ilan Dinstein, Idan Menashe |
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-11-01
|
| Online Access: | https://doi.org/10.1038/s41598-023-46258-x |
Similar Items
An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data
by: Apurba Shil, et al.
Published: (2025-04-01)
by: Apurba Shil, et al.
Published: (2025-04-01)
Sleep disturbances are associated with irritability in ASD children with sensory sensitivities
by: Alona Molcho-Haimovich, et al.
Published: (2023-07-01)
by: Alona Molcho-Haimovich, et al.
Published: (2023-07-01)
Reliably quantifying the severity of social symptoms in children with autism using ASDSpeech
by: Marina Eni, et al.
Published: (2025-01-01)
by: Marina Eni, et al.
Published: (2025-01-01)
Adherence to treatment and parents’ perspective about effectiveness of melatonin in children with autism spectrum disorder and sleep disturbances
by: Hadar Sadeh, et al.
Published: (2023-10-01)
by: Hadar Sadeh, et al.
Published: (2023-10-01)
Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder
by: Shirley Solomon, et al.
Published: (2024-06-01)
by: Shirley Solomon, et al.
Published: (2024-06-01)
Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder
by: Ohad Regev, et al.
Published: (2024-09-01)
by: Ohad Regev, et al.
Published: (2024-09-01)
Comparing three algorithms of automated facial expression analysis in autistic children: different sensitivities but consistent proportions
by: Liora Manelis-Baram, et al.
Published: (2025-10-01)
by: Liora Manelis-Baram, et al.
Published: (2025-10-01)
Association between abnormal fetal head growth and autism spectrum disorder
by: O. Regev, et al.
Published: (2021-04-01)
by: O. Regev, et al.
Published: (2021-04-01)
Genetic Elucidation of Ultrasonography Fetal Anomalies in Children with Autism Spectrum Disorder
by: O. Regev, et al.
Published: (2023-03-01)
by: O. Regev, et al.
Published: (2023-03-01)
Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
by: Jiwoong Kim, et al.
Published: (2013-03-01)
by: Jiwoong Kim, et al.
Published: (2013-03-01)
Sponge-Associated Polychaetes: Not a Random Assemblage
by: Liron Goren, et al.
Published: (2021-05-01)
by: Liron Goren, et al.
Published: (2021-05-01)
Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
by: Marisa P. Dolled-Filhart, et al.
Published: (2013-01-01)
by: Marisa P. Dolled-Filhart, et al.
Published: (2013-01-01)
ERRATUM: Acknowledgments Correction. Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
by: Jiwoong Kim, et al.
Published: (2013-06-01)
by: Jiwoong Kim, et al.
Published: (2013-06-01)
The older sibling effect: comparing social functioning outcomes for autistic children with typically developing siblings, no siblings, and autistic siblings
by: Yonat Rum, et al.
Published: (2025-03-01)
by: Yonat Rum, et al.
Published: (2025-03-01)
Temporal dynamics of isolation calls emitted by pups in environmental and genetic mouse models of autism spectrum disorder
by: Ayelet Gal, et al.
Published: (2023-10-01)
by: Ayelet Gal, et al.
Published: (2023-10-01)
The Effect of Antibiotic Treatment of Early Childhood Shigellosis on Long-Term Prevalence of Attention Deficit/Hyperactivity Disorder
by: Yair Sadaka, et al.
Published: (2021-10-01)
by: Yair Sadaka, et al.
Published: (2021-10-01)
Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis
by: Martina Modena, et al.
Published: (2020-04-01)
by: Martina Modena, et al.
Published: (2020-04-01)
Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing
by: Riyue Bao, et al.
Published: (2014-09-01)
by: Riyue Bao, et al.
Published: (2014-09-01)
Mitochondrial disorders and ASD. Mechanisms of mitochondrial dysfunction in ASD
by: A. Sidenkova
Published: (2023-03-01)
by: A. Sidenkova
Published: (2023-03-01)
THE DEVELOPMENT OF THE INHIBITORY SYSTEM CHANGES IS REGULATED BY THE METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE
by: Danielle Barda, et al.
Published: (2023-10-01)
by: Danielle Barda, et al.
Published: (2023-10-01)
Genetic impairment of folate metabolism regulates cortical interneurons and social behavior
by: Noa Sadigurschi, et al.
Published: (2023-06-01)
by: Noa Sadigurschi, et al.
Published: (2023-06-01)
Whole exome sequencing and bioinformatics reveal PMAIP1 and PDGFRL as immune-related gene markers in follicular thyroid carcinoma
by: Haobo Wang, et al.
Published: (2025-05-01)
by: Haobo Wang, et al.
Published: (2025-05-01)
Population and sub-national (district) level diversity in missed and dropout of different doses of hepatitis-B vaccine among Indian children aged 12–59 months
by: Junaid Khan, et al.
Published: (2022-01-01)
by: Junaid Khan, et al.
Published: (2022-01-01)
Population and sub-national (district) level diversity in missed and dropout of different doses of hepatitis-B vaccine among Indian children aged 12-59 months.
by: Junaid Khan, et al.
Published: (2022-01-01)
by: Junaid Khan, et al.
Published: (2022-01-01)
Gaming Platforms for People with ASD
by: Irini Chaidi, et al.
Published: (2024-11-01)
by: Irini Chaidi, et al.
Published: (2024-11-01)
Serum cholesterol in children with ASD
by: Firas Fadhil Alyaseen
Published: (2024-09-01)
by: Firas Fadhil Alyaseen
Published: (2024-09-01)
Early premorbid of children with ASD
by: M. Kalinina, et al.
Published: (2021-04-01)
by: M. Kalinina, et al.
Published: (2021-04-01)
Particularities of language and communication in ASD
by: Ioana DÂRJAN, et al.
Published: (2023-10-01)
by: Ioana DÂRJAN, et al.
Published: (2023-10-01)
Predicting the Water Sorption in ASDs
by: Dominik Borrmann, et al.
Published: (2022-05-01)
by: Dominik Borrmann, et al.
Published: (2022-05-01)
Focus of Attention in Children with ASD
by: E.G. Karimulina, et al.
Published: (2020-01-01)
by: E.G. Karimulina, et al.
Published: (2020-01-01)
Microbiota and Microglia Interactions in ASD
by: Marcela Davoli-Ferreira, et al.
Published: (2021-05-01)
by: Marcela Davoli-Ferreira, et al.
Published: (2021-05-01)
ASD and Perceptual Disturbances - Do People With ASD Have an Increased Risk of Visual and Auditory Hallucinations?
by: Dawn Collins, et al.
Published: (2025-06-01)
by: Dawn Collins, et al.
Published: (2025-06-01)
Machine-learning of medical cannabis chemical profiles reveals analgesia beyond placebo expectations
by: Adi Hatav, et al.
Published: (2025-07-01)
by: Adi Hatav, et al.
Published: (2025-07-01)
Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients
by: Bastida-Lertxundi Nerea, et al.
Published: (2025-03-01)
by: Bastida-Lertxundi Nerea, et al.
Published: (2025-03-01)
Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.
by: Jason Li, et al.
Published: (2014-01-01)
by: Jason Li, et al.
Published: (2014-01-01)
Marine Mammals’ NMDA Receptor Structure: Possible Adaptation to High Pressure Environment
by: Alice Bliznyuk, et al.
Published: (2018-11-01)
by: Alice Bliznyuk, et al.
Published: (2018-11-01)
Schooling of people with Autism Spectrum Disorder (ASD) in adulthood: reports and perspectives of parents and caregivers of adults with ASD
by: Fernanda Duarte Rosa, et al.
Published: (2019-06-01)
by: Fernanda Duarte Rosa, et al.
Published: (2019-06-01)
The Influence of ASD Severity on Parental Overload: The Moderating Role of Parental Well-Being and the ASD Pragmatic Level
by: Eva M. Lira Rodríguez, et al.
Published: (2022-05-01)
by: Eva M. Lira Rodríguez, et al.
Published: (2022-05-01)
DeepASD: a deep adversarial-regularized graph learning method for ASD diagnosis with multimodal data
by: Wanyi Chen, et al.
Published: (2024-09-01)
by: Wanyi Chen, et al.
Published: (2024-09-01)
Comparison between Personal Protective Equipment Wearing Protocols to Shorten Time to Treatment in Pre-Hospital Settings
by: Or Lavi, et al.
Published: (2022-08-01)
by: Or Lavi, et al.
Published: (2022-08-01)
Similar Items
-
An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data
by: Apurba Shil, et al.
Published: (2025-04-01) -
Sleep disturbances are associated with irritability in ASD children with sensory sensitivities
by: Alona Molcho-Haimovich, et al.
Published: (2023-07-01) -
Reliably quantifying the severity of social symptoms in children with autism using ASDSpeech
by: Marina Eni, et al.
Published: (2025-01-01) -
Adherence to treatment and parents’ perspective about effectiveness of melatonin in children with autism spectrum disorder and sleep disturbances
by: Hadar Sadeh, et al.
Published: (2023-10-01) -
Sleep disturbances are associated with greater healthcare utilization in children with autism spectrum disorder
by: Shirley Solomon, et al.
Published: (2024-06-01)
