Intermediate confounding in trio relationships: The importance of complete data in effect size estimation
Sign Up to like & getrecommendations! 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
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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
Clair3-trio: high-performance Nanopore long-read variant calling in family trios with trio-to-trio deep neural networks
Sign Up to like & getrecommendations! 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†
Sign Up to like & getrecommendations! 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
Sign Up to like & getrecommendations! 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
KOREF_S1: phased, parental trio-binned Korean reference genome using long reads and Hi-C sequencing methods
Sign Up to like & getrecommendations! Published in 2022 at "GigaScience"
DOI: 10.1093/gigascience/giac022
Abstract: Abstract Background KOREF is the Korean reference genome, which was constructed with various sequencing technologies including long reads, short reads, and optical mapping methods. It is also the first East Asian multiomic reference genome accompanied… read more here.
Keywords: korean reference; reference; reference genome; trio ... See more keywords
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx355
Abstract: Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of… read more here.
Keywords: rare sequence; novo mutations; trio; associated novo ... See more keywords
Trio‐binned genomes of the woodrats Neotoma bryanti and Neotoma lepida reveal novel gene islands and rapid copy number evolution of xenobiotic metabolizing genes
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Ecology Resources"
DOI: 10.1111/1755-0998.13650
Abstract: The genomic architecture underlying the origins and maintenance of biodiversity is an increasingly accessible feature of species, due in large part to third‐generation sequencing and novel analytical toolsets. Applying these techniques to woodrats (Neotoma spp.)… read more here.
Keywords: woodrats neotoma; novel gene; neotoma bryanti; trio ... See more keywords