El Blog de EERR.es
Noticias y artículos de bioquímica y genética humana
Noticias
- New genomic approaches uncover surprising cellular dynamics of the aging brainpor Clinical genetics
- Human islet map links cell mix to insulin output and diabetes riskpor Clinical genetics
- Tiny worms, with help from researchers, may hold key to treating rare childhood diseasepor Clinical genetics
- Research into Friedreich’s ataxia reveals how DNA folding can silence a key genepor Clinical genetics
- Are your meds and DNA a bad match? This test alerts clinicianspor Clinical genetics
- A hidden inheritance could explain disease risks beyond DNA: Q&Apor Clinical genetics
- Children with rare debilitating brain diseases suffer from mutations in a little-known protein complexpor Clinical genetics
- How a tiny cell structure may shape brain development and drive diseasepor Clinical genetics
- What lies behind hereditary heart rhythm disorderspor Clinical genetics
- Cancer cells are better able to resist treatments when they have an abnormal number of chromosomespor Clinical genetics
- National study examines genetic testing to inform follow-up care for cancer survivorspor Clinical genetics
- Gene duplication tied to juvenile glaucoma in 20 patients across 10 familiespor Clinical genetics
- Why unusually long telomeres could raise lymphoma risk and reshape cancer monitoringpor Clinical genetics
- Hidden sex differences may explain why lupus strikes women far more oftenpor Clinical genetics
- One overlooked detail in cancer genomes is rewriting which mutations really matterpor Clinical genetics
- Blood protein study of 78,000 people uncovers disease mechanisms and drug repurposing leadspor Clinical genetics
Artículos
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohortpor Alistair T. PagnamentaEuropean Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02118-6Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
- Transcription-based identification of uncharacterized genes in the human immune responsepor Emil E. VorsteveldEuropean Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02117-7Transcription-based identification of uncharacterized genes in the human immune response
- Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1por Hebah O. AlthebaitiEuropean Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02105-xDistinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1
- EMQN Best Practice Guidelines for Genetic Testing and Reporting in <i>RYR1</i>-related disorderspor Rachel L. RobinsonEuropean Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02121-xEMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disorders
- Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1por Paul C. LottEuropean Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02127-5Hereditary gastric cancer checks its balance at the ATM: Broadening risk beyond CDH1
- Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationspor Manon ChretienObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing. Therefore, one of the aims of this study was to better describe…
- High prevalence of Hb Q-Thailand not in cis with the -α4.2 deletion: genotypes, phenotypes, and implications in the cenxi population of southern Chinapor Yanwei LiObjectivesHb Q-Thailand, a common hemoglobin variation in Southeast Asia, has historically been associated with the -α4.2 deletion. However, in the Cenxi population of southern China, this variant is frequently detected without the -α4.2 deletion. This…
- Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implicationspor Gemma L. BrownEuropean Journal of Human Genetics, Published online: 08 May 2026; doi:10.1038/s41431-026-02108-8Genomic newborn screening: a scoping review of the field’s evolution and associated ethical, legal, and social implications
- Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic reviewpor Naif S. SannanBackgroundAge-related macular degeneration (AMD) is a leading cause of vision loss, with genetic factors playing a key role in disease susceptibility and progression. While extensive genetic research is being conducted, the genetic architecture of AMD …
- The impact of sex on the immune system explored at the single-cell levelYazar et al. characterized sex-based immune differences at single-cell resolution using sex-differential expression (differentially expressed genes [DEGs]) and sex-stratified expression quantitative loci (eQTLs). They identified sex-biased genes and pa…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesPopulation cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…
- Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screeningpor Hafez Ismaili M’hamdiEuropean Journal of Human Genetics, Published online: 06 May 2026; doi:10.1038/s41431-026-02123-9Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening
- Genomic newborn screening: data retention for research and clinical reusepor Anna C. F. LewisEuropean Journal of Human Genetics, Published online: 06 May 2026; doi:10.1038/s41431-026-02120-yGenomic newborn screening: data retention for research and clinical reuse
- Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunctionpor Zheng, R., Du, X., Yan, J., Huang, G., Guo, Z., Li, W., Que, H., Wen, Y., Yan, F., Chen, D., Dai, L., Shi, Y., Chen, W., Xu, W.BackgroundPrimary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ciliopathies, additional causative …
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected DeathAlthough structural heart abnormalities are not typically associated with short QT syndrome (SQTS)-related sudden unexpected death, few autopsy studies have examined the underlying pathology and genetic factors of SQTS. Therefore, comprehensive patholo…
- Validation of MyHPVscoreAs rates of human papillomavirus-positive (HPV+) oropharynx cancer increase, there is increasing need for accurate biomarkers for diagnosis, treatment, and surveillance. The analytical performance of MyHPVscore, a droplet digital PCR laboratory-develop…
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Departmentpor Samuel M. Goodfellow, Jennifer Dien Bard, Vivian Lee, Deborah R. Liu, Cristina CostalesAcute respiratory infections in children contribute to a significant volume of pediatric emergency department (PED) visits annually. Rapid molecular respiratory pathogen panels (RPPs) have increasingly been integrated into diagnostic workup. This study…
- Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-typepor Elsa Lucas-CastroEuropean Journal of Human Genetics, Published online: 02 May 2026; doi:10.1038/s41431-026-02124-8Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type
- Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillationpor Oliver Bundgaard VadEuropean Journal of Human Genetics, Published online: 30 April 2026; doi:10.1038/s41431-026-02119-5Prevalence of deleterious variants in cardiomyopathy genes in early-onset atrial fibrillation
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detectionBackgroundCurrent guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV) identification. This study aime…
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health ServiceBackgroundEstablishing best practice recommendations helps to increase consistency, equity and innovation in clinical genomics services. Bioinformatics approaches are a core component of clinical genomics services that use high-throughput genomic seque…
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health ServiceBackgroundEstablishing best practice recommendations helps to increase consistency, equity and innovation in clinical genomics services. Bioinformatics approaches are a core component of clinical genomics services that use high-throughput genomic seque…
- Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detectionBackgroundCurrent guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV) identification. This study aime…
- Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencingBackgroundMobile element insertions (MEIs) disrupting coding sequences are rare but clinically significant mutations that are often missed by standard next-generation sequencing (NGS) workflows. Multiple endocrine neoplasia type 1 (MEN1) is an autosoma…
- Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencingBackgroundMobile element insertions (MEIs) disrupting coding sequences are rare but clinically significant mutations that are often missed by standard next-generation sequencing (NGS) workflows. Multiple endocrine neoplasia type 1 (MEN1) is an autosoma…
- ‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britainpor Rachel HortonEuropean Journal of Human Genetics, Published online: 29 April 2026; doi:10.1038/s41431-026-02113-x‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain…
- <i>SLC52A3</i>-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsulapor Bushra Al ShamsiEuropean Journal of Human Genetics, Published online: 29 April 2026; doi:10.1038/s41431-026-02106-wSLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula
- 21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfectapor Binshan ZhaoObjectiveOsteogenesis imperfecta (OI) is a group of connective tissue disorders with significantly clinical and genetic heterogeneity, which is characterized by low bone mineral density, recurrent fractures and skeletal deformities. This study aimed to…
- Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samplesWe applied HiFi long-read sequencing to 191 real-world clinical samples, which included buccal and low-molecular-weight DNA, and were enriched for difficult-to-detect variants. Overall, 99.6% (479/481) of variants were automatically detected with HiFi,…
- Public perceptions of genetic sequencing in China: barriers and drivers of adoptionpor Liyong LuEuropean Journal of Human Genetics, Published online: 27 April 2026; doi:10.1038/s41431-026-02109-7Public perceptions of genetic sequencing in China: barriers and drivers of adoption
- Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseasespor Jonna ClancyEuropean Journal of Human Genetics, Published online: 27 April 2026; doi:10.1038/s41431-026-02100-2Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases
- Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohortDevelopmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). We assesse…
- Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohortDevelopmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). We assesse…
- Access alone does not define equity in reproductive geneticspor Asha N. TalatiEuropean Journal of Human Genetics, Published online: 27 April 2026; doi:10.1038/s41431-026-02115-9Access alone does not define equity in reproductive genetics
- The genetics of the circle of Willis come full circlepor Miriam E. QuinlanEuropean Journal of Human Genetics, Published online: 25 April 2026; doi:10.1038/s41431-026-02112-yThe genetics of the circle of Willis come full circle
- Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Familiespor Lihua Wu, Yunqi Lin, Bo Gao, Biyin Zhu, Pu Dai, Shaopeng HuangIdentifying the molecular causes of hereditary sensorineural hearing loss is essential for effective prevention and control. Current prenatal diagnostic methods are primarily invasive and carry significant risks. While noninvasive prenatal testing for …
- Table of Contentspor The Journal of Molecular Diagnostics
- Editorial Boardpor The Journal of Molecular Diagnostics
- Benchmarking genetic birth prevalence estimates against newborn screening dataGenetics-first prediction of disease prevalence based on pathogenic variant frequencies lacks systematic validation. We benchmarked genetic models for 28 recessive disorders against newborn screening data from ∼23 million infants. Census-adjusted ances…
- VHL gene fragment analysis: large inversion detection in Alu region for clinical applicationspor Baugher, R. N., Mellott, S. D., Pike, K. M., Young, T. B., Lawhorn, H. E., Hewitt, S. M.von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organs. While cur…
- VHL gene fragment analysis: large inversion detection in Alu region for clinical applicationspor Baugher, R. N., Mellott, S. D., Pike, K. M., Young, T. B., Lawhorn, H. E., Hewitt, S. M.von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organs. While cur…
- Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysispor nYongchao Yu, nYuan Zhu, nQian Tian, nLijuan Shao, nJiao Zeng, nDandan Xu, nXiangang MonAnnals of Human Genetics, EarlyView.
- Identification of PSMA4 as a Therapeutic Target for Atherosclerosis: A Comprehensive Multiomics Mendelian Randomization Analysispor nYongchao Yu, nYuan Zhu, nQian Tian, nLijuan Shao, nJiao Zeng, nDandan Xu, nXiangang MonAnnals of Human Genetics, EarlyView.
- Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysispor Yutong LiChromosomal inversion is one of the common types of chromosomal structural rearrangements. For couples with chromosomal inversions, the appropriate recommendations for preimplantation genetic testing (PGT) remain a subject of ongoing debate. This study…
- Opportunistic genomic screening of healthy controls in an Australian biobankpor Lucas A. MitchellEuropean Journal of Human Genetics, Published online: 23 April 2026; doi:10.1038/s41431-026-02104-yOpportunistic genomic screening of healthy controls in an Australian biobank
- Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detectionpor Emelie FoordThalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive …
- Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesWe share new resources and approaches for genome-wide analysis of tandem repeat (TR) variation. These include a method for characterizing variation clusters around TRs, a new catalog of 4.86 million TR loci, and the TRExplorer web portal, which provide…
- Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohortBackgroundMeniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes rem…
- Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohortBackgroundMeniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes rem…
- Evaluation of chimerism testing by next generation sequencing using indel markers: Analytical validation and examples of clinical utilizationPost-transplant engraftment monitoring is essential to assess the risk of complications after allogeneic hematopoietic transplantation such as graft failure and disease relapse. It is based on the analysis of the percentage of chimerism detected in the…
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (OLIVE)Interpretation of somatic variants in clinical oncology requires integration of gene-specific biology, tumor context, and multiple evidence sources. While large language models (LLMs) can assist variant interpretation, concerns remain regarding reprodu…
- Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview studypor Gamze KaplanEuropean Journal of Human Genetics, Published online: 22 April 2026; doi:10.1038/s41431-026-02099-6Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study
- Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotypepor Junxiang TangFloating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the SRCAP gene. It is characterized by distinctive facial features, delayed bone age, short stature, and moderate int…
- Revisiting penetrance in an era of genomic screeningpor Leigh JacksonEuropean Journal of Human Genetics, Published online: 21 April 2026; doi:10.1038/s41431-026-02101-1Revisiting penetrance in an era of genomic screening
- Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationspor Alfonso Manuel D’AlessioEuropean Journal of Human Genetics, Published online: 21 April 2026; doi:10.1038/s41431-026-02098-7Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract SpecimensLower respiratory tract infections (LRTIs) represent a major cause of morbidity and mortality, particularly among critically ill patients. Rapid molecular diagnostic tests have significantly improved the detection of respiratory pathogens. However, mos…
- Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory NetworksGene regulatory networks (GRNs) define the regulatory relationships among molecules such as transcription factors, chromatin remodelers, and target genes. GRNs play a critical role in diverse biological processes, including development, disease manifes…
- Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeuticspor Sara Emad El-Agamy, Francesca Mattedi and Pietro FrattaTDP-43 is an RNA-binding protein that regulates multiple aspects of RNA processing, and its mislocalization from the nucleus to the cytoplasm is a defining feature of amyotrophic lateral sclerosis (ALS). While both loss- and gain-of-function mechanisms…