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Development of a question prompt list to support Consent for Genomic Testing (CoGenT) and research
Development of a question prompt list to support Consent for Genomic Testing (CoGenT) and research
While genomic testing is increasingly utilised to personalise cancer treatment, its complexity creates challenges in achie...
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China
Whole Y-chromosome and mitochondrial variations provide insights into deep demographic histories and sex-biased admixture ...
ScSpTITH: a rank-correlation framework for robust quantification of multi-dimensional tumor heterogeneity
ScSpTITH: a rank-correlation framework for robust quantification of multi-dimensional tumor heterogeneity
Intra- and inter-tumoral heterogeneity (ITH) is a fundamental hallmark of cancer, driving spatial, temporal, cellular, and...
Sex differences and alcohol modulation in the heritability of MASLD: a twin study of the 2023 definition
Sex differences and alcohol modulation in the heritability of MASLD: a twin study of the 2023 definition
The baseline heritability of the newly defined metabolic dysfunction-associated steatotic liver disease (MASLD) is unknown...
The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices
The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices
This study analyzed data from the National Coordinating Center for the Regional Genetics Networks (NCC) 2023 electronic su...
Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations
Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations
The Sino-Tibetan and Altaic groups have played central roles in shaping the human demographic history of populations at th...
ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway
ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway
Pancreatic cancer cell metastasis is a major factor influencing prognosis. A Ras homologue member I (ARHI) was reported to...
Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases
Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases
Selective immunoglobulin A deficiency (IgAD) is the most prevalent primary immunodeficiency and frequently coexists with a...
Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder
Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder
Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent and heritable of neurodevelopmental disorders...
AI in variant analysis: fast track to genetic diagnoses
AI in variant analysis: fast track to genetic diagnoses
While falling costs have expanded access to genomic sequencing, clinical utility is frequently hindered by the challenge o...
A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling
A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling
A missense variant of adenylate cyclase 7 (AC7), p.Asp439Glu, has been significantly associated with ulcerative colitis (U...
Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism
Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism
Chromosomal triplications are rare structural variations often associated with complex phenotypes. We report the molecular...
Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank
Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank
A central challenge in polygenic risk prediction is measuring and controlling for confounding due to population stratifica...
Blending borders: reconstructing the genetic history of the Sindhi population
Blending borders: reconstructing the genetic history of the Sindhi population
Sindhis are an Indo-Aryan ethnolinguistic community primarily associated with the Sindh region of present-day Pakistan. Th...
A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome
A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome
Synonymous mutations, once regarded as silent, are increasingly recognized as pathogenic through disruption of mRNA splici...
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation...
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project
Rare undiagnosed diseases impose a substantial burden on patients, families, and health systems. Collectively they affect ...
Identification of a novel isoform of by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea
Identification of a novel isoform of by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea
Pathogenic variation of SLC26A4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NS...
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome
Weiss-Kruszka syndrome (WSKA; OMIM 618619) is a rare autosomal dominant neurodevelopmental disorder caused by haploinsuffi...
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...
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