El Blog de SEBIGEC
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
- 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 …
- 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…
- 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
- 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 …
- 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…
- 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…
- 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…
- “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…
- 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
- 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…
- Advisory Board and Contentspor Trends in Genetics
- Subscription and Copyright Informationpor Trends in Genetics
- Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple ratepor Liu, S., Cao, L., Zhang, V. W., Huang, S., Liu, H., Wei, X., Luo, Y., Li, Y., Zhou, L., Jiang, L., Zhu, Q., Liu, H.BackgroundThe optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design.MethodsUsing a 334-gen…
- Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italypor Rossana RoncatoEuropean Journal of Human Genetics, Published online: 03 April 2026; doi:10.1038/s41431-026-02063-4Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in I…
- Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testingpor Matteo FlorisEuropean Journal of Human Genetics, Published online: 03 April 2026; doi:10.1038/s41431-026-02033-wPosition statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
- Certified Reference Materials for Standardization of cfDNA Isolation Recovery in Liquid Biopsypor Sumeyra Nur Sanal Demirci, Sema Tiryaki, Muslum AkgozReliable quantification of cell-free DNA (cfDNA) in liquid biopsy diagnostics critically depends on unbiased and reproducible isolation workflows. Fragment-length-dependent recovery during isolation represents a major source of pre-analytical bias. Thi…
- Oncogenicity Variant Interpreter (OncoVI): oncogenicity guidelines implementation to support somatic variants interpretation in precision oncologyAccurate and reproducible interpretation of somatic variants is fundamental for therapy decision-making in cancer patients. To harmonise and automate oncogenicity classification, Oncogenicity Variant Interpreter (OncoVI), an open-source, Python-based i…
- Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx AssayPediatric HIV-1 viral load monitoring is often limited by the small blood volumes that can be safely obtained from infants and young children. Standard assays typically require 0.5–0.7 mL of plasma, which can pose challenges in these settings. This stu…
- Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics servicespor Saumeh SaeediEuropean Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02094-xCorrection: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics ser…
- Correction: Comprehensive analysis of <i>CNOT3</i>-related neurodevelopmental disorders: phenotypic and genotypic characterizationpor Camille EngelEuropean Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02087-wCorrection: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
- Advances in genomic medicine: from diagnosis to patient perspectivespor Seda S. ZonuziEuropean Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02088-9Advances in genomic medicine: from diagnosis to patient perspectives
- Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studiesWe proposed methods leveraging functionally informed variants for multi-ancestry transcriptome prediction and demonstrated improvements on multi-ancestry TWAS performance. Our proposed omnibus approach, which aggregates TWAS results, further improves T…
- Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traitspor Xiaotong Sun, Nathan LaPierre, Jing Gu, Wenchang Tan, Xin HeGWASs have identified thousands of trait-associated variants, yet their downstream mechanisms remain unclear. By linking variants to pathway-level expression factors and developing the effect consistency test, we uncover biological pathways mediating i…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesPolygenic risk scores (PRSs) are promising tools that have the potential to help translate findings from genetic association studies into clinically meaningful health insights. As work on PRSs has increased, it has become clear that the accuracy of the…