Cargando…

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data

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 extremely...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shil, Apurba, Levin, Liron, Golan, Hava, Meiri, Gal, Michaelovski, Analya, Sadaka, Yair, Aran, Adi, Dinstein, Ilan, Menashe, Idan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10620213/ https://www.ncbi.nlm.nih.gov/pubmed/37914828 http://dx.doi.org/10.1038/s41598-023-46258-x

Ejemplares similares

Sleep disturbances are associated with irritability in ASD children with sensory sensitivities
por: Molcho-Haimovich, Alona, et al.
Publicado: (2023)

Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel
por: Tal-Ben Ishay, Rotem, et al.
Publicado: (2021)

Adherence to treatment and parents’ perspective about effectiveness of melatonin in children with autism spectrum disorder and sleep disturbances
por: Sadeh, Hadar, et al.
Publicado: (2023)

Comorbidity and health services' usage in children with autism spectrum disorder: a nested case–control study
por: Dizitzer, Yotam, et al.
Publicado: (2020)

Association Between Antenatal Antimicrobial Therapy and Autism Spectrum Disorder—A Nested Case-Control Study
por: Abelson, Nitzan, et al.
Publicado: (2021)

Home-quarantine during the initial Covid-19 outbreak in Israel: parent perceived impact on children with ASD
por: Arazi, Ayelet, et al.
Publicado: (2022)

Sleep Disturbances and Sensory Sensitivities Co-Vary in a Longitudinal Manner in Pre-School Children with Autism Spectrum Disorders
por: Manelis-Baram, Liora, et al.
Publicado: (2021)

Association between ultrasonography foetal anomalies and autism spectrum disorder
por: Regev, Ohad, et al.
Publicado: (2022)

Quantifying the social symptoms of autism using motion capture
por: Budman, Ian, et al.
Publicado: (2019)

Early diagnosis of autism in the community is associated with marked improvement in social symptoms within 1–2 years
por: Gabbay-Dizdar, Nitzan, et al.
Publicado: (2021)

Children with autism exhibit similar longitudinal changes in core symptoms when placed in special or mainstream education settings
por: Ilan, Michal, et al.
Publicado: (2023)

Sleep disturbances are associated with specific sensory sensitivities in children with autism
por: Tzischinsky, Orna, et al.
Publicado: (2018)

Association between abnormal fetal head growth and autism spectrum disorder
por: Regev, O., et al.
Publicado: (2021)

Genetic Elucidation of Ultrasonography Fetal Anomalies in Children with Autism Spectrum Disorder
por: Regev, O., et al.
Publicado: (2023)

Children and adolescents with ASD treated with CBD-rich cannabis exhibit significant improvements particularly in social symptoms: an open label study
por: Hacohen, Micha, et al.
Publicado: (2022)

ASD: a bioinformatics resource on alternative splicing
por: Stamm, Stefan, et al.
Publicado: (2006)

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
por: Abrahams, Brett S, et al.
Publicado: (2013)

The Effect of Antibiotic Treatment of Early Childhood Shigellosis on Long-Term Prevalence of Attention Deficit/Hyperactivity Disorder
por: Sadaka, Yair, et al.
Publicado: (2021)

Novel bioinformatic developments for exome sequencing
por: Lelieveld, Stefan H., et al.
Publicado: (2016)

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
por: Patowary, Ashok, et al.
Publicado: (2019)

Improving bioinformatic pipelines for exome variant calling
por: Ji, Hanlee P
Publicado: (2012)

Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
por: Kim, Jiwoong, et al.
Publicado: (2013)

Exploring the familial role of social responsiveness differences between savant and non-savant children with autism
por: Daniel, Edan, et al.
Publicado: (2020)

Early Childhood Shigellosis and Attention Deficit Hyperactivity Disorder: A Population-Based Cohort Study with a Prolonged Follow-up
por: Merzon, Eugene, et al.
Publicado: (2020)

A probabilistic classifier for olfactory receptor pseudogenes
por: Menashe, Idan, et al.
Publicado: (2006)

Cell-type-specific neuroanatomy of cliques of autism-related genes in the mouse brain
por: Grange, Pascal, et al.
Publicado: (2015)

Risk Factors Before Dialysis Predominate as Mortality Predictors in Diabetic Maintenance Dialysis patients
por: Tsur, Noa, et al.
Publicado: (2019)

The Effect of Orally Administered Δ9-Tetrahydrocannabinol (THC) and Cannabidiol (CBD) on Obesity Parameters in Mice
por: Eitan, Adi, et al.
Publicado: (2023)

The Magnitude of Trial-By-Trial Neural Variability Is Reproducible over Time and across Tasks in Humans
por: Arazi, Ayelet, et al.
Publicado: (2017)

Mitochondrial disorders and ASD. Mechanisms of mitochondrial dysfunction in ASD
por: Sidenkova, A.
Publicado: (2023)

Temporal dynamics of isolation calls emitted by pups in environmental and genetic mouse models of autism spectrum disorder
por: Gal, Ayelet, et al.
Publicado: (2023)

PGA: power calculator for case-control genetic association analyses
por: Menashe, Idan, et al.
Publicado: (2008)

No evidence of early head circumference enlargements in children later diagnosed with autism in Israel
por: Dinstein, Ilan, et al.
Publicado: (2017)

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)
por: Liu, Yong, et al.
Publicado: (2018)

Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing
por: Dolled-Filhart, Marisa P., et al.
Publicado: (2013)

ERRATUM: Acknowledgments Correction. Bioinformatics Interpretation of Exome Sequencing: Blood Cancer
por: Kim, Jiwoong, et al.
Publicado: (2013)

Exploring the spatial heterogeneity in different doses of vaccination coverage in India
por: Khan, Junaid, et al.
Publicado: (2018)

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
por: Khan, Junaid, et al.
Publicado: (2022)

Prioritization of Copy Number Variation Loci Associated with Autism from AutDB–An Integrative Multi-Study Genetic Database
por: Menashe, Idan, et al.
Publicado: (2013)

Visual search in ADHD, ASD and ASD + ADHD: overlapping or dissociating disorders?
por: Seernani, D., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_60mjfhev0e840fo9d1h7sq17g2