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Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia
Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia
This study aims to assess the genetic burden of fetal congenital diaphragmatic hernia (CDH) and identify prenatal, perinat...
Regulating genome language models: navigating policy challenges at the intersection of AI and genetics
Regulating genome language models: navigating policy challenges at the intersection of AI and genetics
Genome Language Models (GLMs) represent a transformative convergence of artificial intelligence (AI) and genomics, offerin...
Investigation of results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations
Investigation of results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations
Despite advances in the genetic diagnosis of hearing loss, there remains room for improvement. One way to improve the gene...
Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study
Genetic differences between diagnosed and undiagnosed Celiac disease: a population-based study
A large proportion of individuals with celiac disease (CeD) remain undiagnosed, often presenting at an older age of onset ...
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease
Analysis of blood-based DNA methylation signatures of aging and disease progression in inflammatory bowel disease
Inflammatory bowel diseases (IBDs) are chronic inflammatory disorders influenced by environmental factors and characterise...
Most males in modern Poland carry Y-chromosomal lineages from clades that have recently expanded over Central, Eastern and South-Eastern Europe
Most males in modern Poland carry Y-chromosomal lineages from clades that have recently expanded over Central, Eastern and South-Eastern Europe
Previous studies on Y-chromosomal haplogroup diversity in Poland have been focused mainly on macro-haplogroups. Consequent...
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study
Within-family genome-wide association studies (GWAS) can separate direct genetic effects from non-direct genetic biases in...
Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region
Evolution of the Japanese Y chromosome by analysis of the haplogroups and the deletion of the gene in the AZFc region
The Y chromosome is classified into haplogroups based on its nucleotide polymorphisms. There are multiple amplicon genes i...
Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people
Differentiating the demographic histories and local adaptations of middle-altitude Qiang and Tibetan people
Genomic resources from Tibeto-Burman (TB)-speaking populations are underrepresented in human genome research, limiting the...
Development and validation of an MPS-based 513-Plex SNP identity panel for degraded forensic samples
Development and validation of an MPS-based 513-Plex SNP identity panel for degraded forensic samples
Degraded samples pose a challenge in routine forensic practice. The commonly used short tandem repeat markers are not opti...
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia
Microtia-anotia is a common congenital anomaly. In most cases, the genetic etiology remains unknown. The proper developmen...
Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges
Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges
In the last decade, substantial research efforts have started worldwide to foster the clinical translation of Polygenic Ri...
Deficiency of causes Parkinson’s disease due to loss of dopamine neurons
Deficiency of causes Parkinson’s disease due to loss of dopamine neurons
Parkinson’s disease is a progressive neurodegenerative disorder characterized by symptoms such as bradykinesia, rest...
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory
Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory
G-banded chromosome analysis, also known as G-banded karyotyping, remains a fundamental and irreplaceable diagnostic modal...
Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization
Conventional and genetic association between migraine and stroke with druggable genome-wide Mendelian randomization
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targe...
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance
An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated wit...
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2
Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular disorders associated with expansions...
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous variants
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous variants
KITLG pathogenic variants have been associated to three distinct clinical presentations with different combinations of hea...
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in ...
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns
Decade-long application of preimplantation genetic testing for DMD/BMD: analysis of five clinical strategies and embryo recombination patterns
This study aimed to find the most effective PGT-M strategy for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/...
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challenges
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions o...
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous disea...
Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea
Mendelian randomization analysis and molecular mechanism study of childhood asthma and obstructive sleep apnea
Childhood asthma is a common chronic respiratory disorder influenced by various factors, and obstructive sleep apnea (OSA)...
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to ac...
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula
The genetic footprint of the European Roma diaspora: evidence from the Balkans to the Iberian Peninsula
The Roma people have a complex demographic history shaped by their recent dispersal from a South Asian origin into Europe,...
Critical assessment of missense variant effect predictors on disease-relevant variant data
Critical assessment of missense variant effect predictors on disease-relevant variant data
Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of miss...
Congenital enteropathy caused by ezrin deficiency
Congenital enteropathy caused by ezrin deficiency
Ezrin, encoded by EZR, is a central module of epithelial polarity and links membrane proteins to the actin cytoskeleton di...
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project
The study aims to enhance the efficiency of the genetic variant curation process at the Hong Kong Genome Institute by deve...
Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development
Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development
Genetic variants in two major histone H3K36 methyltransferases, NSD1 and SETD2, have been identified in patients with neur...
Healthcare professionals’ perspectives on and experiences with non-invasive prenatal testing: a systematic review
Healthcare professionals’ perspectives on and experiences with non-invasive prenatal testing: a systematic review
Background: The increasing integration of non-invasive prenatal testing (NIPT) into antenatal practice and public healthca...
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