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   Articles with "trio" as a keyword



The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants.

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recommendations! Published in 2025 at "Epilepsia open"

DOI: 10.1002/epi4.70104

Abstract: We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive… read more here.

Keywords: diagnosis; trio; lafora disease; pathogenic variants ... See more keywords

Intermediate confounding in trio relationships: The importance of complete data in effect size estimation

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recommendations! Published in 2020 at "Genetic Epidemiology"

DOI: 10.1002/gepi.22294

Abstract: We present an important characteristic of trio models which may lead to bias and loss of power when one parent is unmodeled in trio analyses. Motivated by recent interest in estimating parental effects on postnatal… read more here.

Keywords: estimation; intermediate confounding; genotype; effect ... See more keywords
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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

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recommendations! Published in 2020 at "Human Genetics"

DOI: 10.1007/s00439-020-02178-8

Abstract: Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the… read more here.

Keywords: exome sequencing; developmental disorders; clinical exome; trio ... See more keywords

Simulation of an MSLB scenario using the 3D neutron kinetic core model DYN3D coupled with the CFD software Trio_U

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recommendations! Published in 2017 at "Nuclear Engineering and Design"

DOI: 10.1016/j.nucengdes.2017.02.002

Abstract: Abstract In the framework of the European project NURESAFE, the reactor dynamics code DYN3D, developed at Helmholtz-Zentrum Dresden-Rossendorf (HZDR), was coupled with the Computational Fluid Dynamics (CFD) solver Trio_U, developed at CEA France, in order… read more here.

Keywords: dyn3d; simulation mslb; mslb scenario; trio ... See more keywords

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

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recommendations! Published in 2021 at "Journal of Human Genetics"

DOI: 10.1038/s10038-020-00896-5

Abstract: Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES).… read more here.

Keywords: trio based; exome sequencing; analysis; trio ... See more keywords

Comparison of GATK and DeepVariant by trio sequencing

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recommendations! Published in 2022 at "Scientific Reports"

DOI: 10.1038/s41598-022-05833-4

Abstract: While next-generation sequencing (NGS) has transformed genetic testing, it generates large quantities of noisy data that require a significant amount of bioinformatics to generate useful interpretation. The accuracy of variant calling is therefore critical. Although… read more here.

Keywords: deepvariant; rate; trio; gatk haplotypecaller ... See more keywords

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing

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recommendations! Published in 2025 at "Scientific Reports"

DOI: 10.1038/s41598-025-06977-9

Abstract: Congenital heart disease (CHD) is the most common type of birth defects in humans. Genetic factors have been identified as an important contributor to the etiology of CHD. However, the underlying genetic causes in most… read more here.

Keywords: whole exome; trio based; congenital heart; trio ... See more keywords

Trio and CRMP2 regulate axon branching and Semaphorin3A signaling

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recommendations! Published in 2025 at "Communications Biology"

DOI: 10.1038/s42003-025-08988-8

Abstract: Trio is a neuronally expressed, Rac1- and RhoA-activating RhoGEF, that is required for neurodevelopment. Mutations affecting the Rac1-activating GEF domain of Trio are associated with profound neurodevelopmental delay and Trio knock-out is embryonic lethal. Although… read more here.

Keywords: axon branching; regulate axon; trio; crmp2 regulate ... See more keywords

Clair3-trio: high-performance Nanopore long-read variant calling in family trios with trio-to-trio deep neural networks

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recommendations! Published in 2022 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbac301

Abstract: Accurate identification of genetic variants from family child-mother-father trio sequencing data is important in genomics. However, state-of-the-art approaches treat variant calling from trios as three independent tasks, which limits their calling accuracy for Nanopore long-read… read more here.

Keywords: family; nanopore long; clair3 trio; trio trio ... See more keywords

Trio a novel bovine high-fecundity allele: II. Hormonal profile and follicular dynamics underlying the high ovulation rate†

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recommendations! Published in 2018 at "Biology of Reproduction"

DOI: 10.1093/biolre/iox156

Abstract: Abstract The newly discovered Trio high-fecundity allele produces multiple ovulations in cattle. This study evaluated (1) size and growth rates of follicles in Trio carriers during a synchronized follicular wave, induced by follicle aspiration; (2)… read more here.

Keywords: deviation; volume; trio carriers; follicle ... See more keywords

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study

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recommendations! Published in 2022 at "Brain"

DOI: 10.1093/brain/awac053

Abstract: Wereadwith great interest the cohort studyof childrenwithepilepsy that was recently published by Zou et al. The authors recruited 320 paediatric epilepsy patients between October 2016 and December 2017 and performed genome sequencing on probands. They… read more here.

Keywords: children epilepsy; genome sequencing; genetic testing; clinical genetic ... See more keywords