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Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study
Obesity and overweight, fundamental components of the metabolic syndrome, predispose individuals to lifestyle-related dise...
Artificial intelligence in medical genomics
Artificial intelligence (AI) and machine learning (ML) are rapidly growing and becoming essential res...
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets
Wilson’s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepa...
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations ...
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situa...
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Ja...
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis....
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Serotonin-transporter-linked polymorphic region (5-HTTLPR), a variable number of tandem repeats in the promoter region of ...
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Fundamentals for predicting transcriptional regulations from DNA sequence patterns
Cell-type-specific regulatory elements, cataloged through extensive experiments and bioinformatics in large-scale consorti...
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, ...
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals
F-box protein 11 (FBXO11) is a member of F-Box protein family, which has recently been proved to be associated with intell...
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Human infertility affects 10–15% of couples. Asthenozoospermia accounts for 18% of men with infertility and is a com...
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation
Hereditary spinocerebellar ataxia (SCA) is a group of clinically and genetically heterogeneous inherited disorders charact...
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad ...
Genetic association mapping leveraging Gaussian processes
Genetic association mapping leveraging Gaussian processes
Gaussian processes (GPs) are a powerful and useful approach for modelling nonlinear phenomena in various scientific fields...
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
Since variants of uncertain significance (VUS) reported in genetic testing cannot be acted upon clinically, this classific...
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This...
Prediction of protein structure and AI
Prediction of protein structure and AI
AlphaFold, an artificial intelligence (AI)-based tool for predicting the 3D structure of proteins, is now widely recognize...
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations
IQSEC2 gene on chromosome Xq11.22 encodes a member of guanine nucleotide exchange factor (GEF) protein that is implicated ...
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter disorder caused by pathog...
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Missense mutations in the alpha-B crystallin gene (CRYAB) have been reported in desmin-related myopathies with or without ...
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technology
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of geno...
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene
Lipid storage myopathy (LSM) is a heterogeneous group of lipid metabolism disorders predominantly affecting skeletal muscl...
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
The gene for ATP binding cassette subfamily A member 2 (ABCA2) is located at chromosome 9q34.3. Biallelic ABCA2 variants l...
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal grow...
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
Pontocerebellar hypoplasia (PCH) is a rare heterogeneous neurodegenerative disorder affecting the pons and cerebellum and ...
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Many questions remain regarding the genetics of idiopathic generalized epilepsy (IGE), a subset of genetic generalized epi...
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
SLC5A6 encodes the sodium-dependent multivitamin transporter, a transmembrane protein that uptakes biotin, pantothenic aci...
JHG Young Scientist Award 2023
JHG Young Scientist Award recognizes articles by young researchers that have made significant contributio...
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
Partial duplications of genes can be challenging to detect and interpret and, therefore, likely represent an underreported...
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