El Blog de EERR.es
Noticias y artículos de bioquímica y genética humana
Noticias
- Cold skin, hot heart, one gene: Hidden temperature switch decides where disease appearspor Clinical genetics
- Cell-by-cell analysis uncovers 345 risk genes across six neuropsychiatric disorderspor Clinical genetics
- A study in 1.4 million women expands knowledge on endometriosis and its biological complexitypor Clinical genetics
- Genetic discovery may explain why pancreatic cancer is so difficult to treatpor Clinical genetics
- A gene that keeps intestinal stem cells stable offers insight into how tissues repair themselvespor Clinical genetics
- Predicting genetic risk for type 1 diabetes just got more accurate thanks to machine learning studypor Clinical genetics
- Common genetic marker may guide new treatment for acute leukemiapor Clinical genetics
- Validation study reveals new tool can predict patients’ genetic risk of 8 cardiovascular conditionspor Clinical genetics
- Cancer cells can rewrite RNA messages, creating new drug targets in aggressive tumorspor Clinical genetics
- Researchers identify how the Dicer enzyme affects infertility and cancer progressionpor Clinical genetics
- Macaques reveal human-like genetic cause of inherited blindness, offering new disease modelpor Clinical genetics
- A banned chemical still lingers, and its strangest effect may depend on sex, genes and one common vitaminpor Clinical genetics
- Fluorescent quail embryos could help solve serious birth defects in humanspor Clinical genetics
- Tapping your genome with AI and quantum computing could deliver on the promise of personalized medicinepor Clinical genetics
- Study identifies new treatment targets for vascular dementiapor Clinical genetics
- Rare bone disease mutation linked to kidney failure pathway, mouse study showspor Clinical genetics
Artículos
- 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…
- 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…
- 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…
- 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…
- 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…
- 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…
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophypor Veronica J. VielandEuropean Journal of Human Genetics, Published online: 20 April 2026; doi:10.1038/s41431-026-02110-0Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dys…
- Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemiapor Yinbing ZhuBackgroundFamilial lecithin-cholesterol acyltransferase (LCAT) deficiency and α0-thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent i…
- A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statisticsMapping causal genes from molecular QTL data remains challenging due to limited instruments. Kang et al. introduce FusioMR, a Bayesian Mendelian randomization framework that leverages gene-region-specific information and supports multi-outcome analyses…
- Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathiesBackgroundOptical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs) w…
- Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probandsLFSPRO is a mathematical model used to identify individuals with TP53 germline mutations, supporting the clinical management of Li-Fraumeni syndrome. It outperforms standard criteria in a genetic counseling concurring cohort at MD Anderson Cancer Cente…
- Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysispor Lian, X., Shen, L., Song, J., Pang, M., Zhong, Y., Zhang, H., Xing, Y., Tung, T.-H., Shen, B.BackgroundGermline pathogenic variants (PVs) of succinate dehydrogenase subunit D (SDHD) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a comprehensive synthesis regarding…
- Genetic Insights Into Hypertension and Breast Cancer Risk in African Women: A Mendelian Randomization and Colocalization AnalysesAnnals of Human Genetics, EarlyView.
- Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple Genespor Dina Marek-Yagel, Rotem Greenberg, Michal Naftali, Shay Ben Shachar, Ofer IsakovGene specific variant interpretation guidelines are constantly being published to refine variant classification. The development, implementation and benefit of such guidelines require careful assessment. This study evaluates the utility of these guidel…
- Retraction: multiple articles in volume 56, issue 1 (2019)por JMG Online FirstSeven research papers and one editorial submitted in response to a call for papers on and published in a topic collection ‘Genomic aspects of cancer immunotherapy: Challenges and clinical implications’ in the Journal of Medical Genetics are…
- Putting polygenic scores in context: How intersectional factors affect relative and absolute genetic riskpor Mihael Cudic, Justin D. Tubbs, Tian Ge, Jordan W. SmollerIntersecting sociodemographic contexts meaningfully reshape genetic risk. Across 106 two-way intersections, polygenic scores showed substantial shifts in relative risk for seven diseases, whereas absolute risk changed more modestly after accounting for…
- “We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic conditionpor Giorgina MaxwellEuropean Journal of Human Genetics, Published online: 11 April 2026; doi:10.1038/s41431-026-02093-y“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic…
- PACells identifies phenotype-associated cell states from single-cell chromatin accessibility profilespor Jiao Hua, Qiongyu Sheng, Shutong Xiao, Yang Zhou, Jing Qi, Shuilin JinPACells is an analysis framework for identifying cell states associated with clinical phenotype by integrating bulk and single-cell chromatin accessibility profiles. It flexibly adapts to various phenotype types. PACells reveals clinically significant …
- Integrating genetic data with biological insight: A practical guide to cis-Mendelian randomizationpor Ville Karhunen, Benjamin Woolf, Pallav Bhatnagar, Dipender Gill, Stephen BurgessIn recent years, the popularity of using cis-Mendelian randomization to assess causal mechanisms has increased due to the availability of genetic association data for molecular quantitative traits. In this review, Karhunen et al. discuss the key consid…
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismWe describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA communitypor Felicity BoardmanEuropean Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02096-9Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the …
- Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons diseasepor Bijlsma, E. K., Koopmann, T. T., de Bot, S. T., Losekoot, M.Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic stat…
- ACAN-related disorder, antenatal presentation and phenotypic variability: a case seriespor Pattani, N., Page, A., Barber, J. L., Del Rey Jimenez, J. C., Alsters, S., Albanese, A., Mansour, S.BackgroundPathogenic ACAN variants (‘aggrecanopathies’) are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with advanc…
- How variant discovery redefines genetic prevalence: the case of cystine stone diseasepor Chen-Han Wilfred WuEuropean Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02085-yHow variant discovery redefines genetic prevalence: the case of cystine stone disease
- Measuring disease likelihood in genomic ascertainmentIn this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
- Variants in the CxxC domain of the epigenetic regulator <i>KDM2B</i> support its role in developmental eye anomaliespor Fabiola CeroniEuropean Journal of Human Genetics, Published online: 07 April 2026; doi:10.1038/s41431-026-02090-1Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies
- Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertensionpor Yanan ChuBackgroundPulmonary hypertension (PH) is a severe progressive disease characterised by elevated pulmonary vascular resistance and right ventricular hypertrophy. Increasing evidence has highlighted the vital role of nicotinamide adenine dinucleotide (NA…