El Blog de SEBIGEC
Noticias y artículos de bioquímica y genética humana
Noticias
- Postmenopausal white women with genetic risk regain weight two times fasterpor Clinical genetics
- Epigenome map reveals how blood sugar-regulating cells change in type 2 diabetespor Clinical genetics
- Gene therapy targets untreatable cystic fibrosis mutation affecting about 10% of patientspor Clinical genetics
- Genetic study reveals likely cause of common heart valve defectpor Clinical genetics
- Novel tool more accurately predicts risk of Li-Fraumeni syndromepor Clinical genetics
- Uncovering hidden genetic risks for early-onset and familial colorectal cancerpor Clinical genetics
- Vitamin D may help prevent diabetes, depending on genespor Clinical genetics
- Astrocytes reveal fragile X pathway tied to seizures and synapse problemspor Clinical genetics
- Gene-screen strategy separates Parkinson’s promoters from protectors, revealing new drug targetspor Clinical genetics
- Genetic clues in 3,000 Indians reveal new lipid routes to cardiometabolic diseasepor Clinical genetics
- Genetic test forecasts chemo response in breast cancerpor Clinical genetics
- 3D DNA switch in brown fat could reshape obesity and diabetes treatmentpor Clinical genetics
- Unraveling the evolution of leukemia in children with Down syndromepor Clinical genetics
- Study explores the genetic basis of an encephalopathy associated with epilepsy and autismpor Clinical genetics
- A hidden DNA region helps drive frailty, exposing brain and immune links that reshape aging riskpor Clinical genetics
- How a key regulatory protein guides cartilage formation during embryonic developmentpor Clinical genetics
Artículos
- 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…
- 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 cohortpor Kasak, L., Rull, K., Valkna, A., Laan, M.BackgroundMeniere’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 utilizationpor Kasak, L., Rull, K., Valkna, A., Laan, M.Post-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)por Kasak, L., Rull, K., Valkna, A., Laan, M.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 Specimenspor Kasak, L., Rull, K., Valkna, A., Laan, M.Lower 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 Networkspor Kasak, L., Rull, K., Valkna, A., Laan, M.Gene 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 encephalopathiespor Kasak, L., Rull, K., Valkna, A., Laan, M.BackgroundOptical 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 Analysespor Kasak, L., Rull, K., Valkna, A., Laan, M.Annals 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 oncologypor Kasak, L., Rull, K., Valkna, A., Laan, M.Accurate 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 Assaypor Kasak, L., Rull, K., Valkna, A., Laan, M.Pediatric 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 studiespor Kasak, L., Rull, K., Valkna, A., Laan, M.We 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…
- Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosispor Wen YiIntroductionRenal fibrosis is a common pathological feature of chronic kidney disease and a major driver of progression to end-stage renal disease, but its molecular mechanisms remain incompletely understood.MethodsWe integrated multi-omics datasets fr…
- Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failurepor Sophia HeinrichProgressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; howe…
- Issue Informationpor Wiley: Annals of Human Genetics: Table of ContentsAnnals of Human Genetics, Volume 90, Issue 3, May 2026.
- Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosuspor Xiao-Xue ZhangBackgroundsSystemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement, and lupus nephritis (LN) is a severe manifestation. Long non-coding RNAs (lncRNAs) have been implicated in regulating immune responses in autoimmune di…
- TTN variants in pediatric cardiomyopathy: a retrospective cohort studypor Yu QiuBackgroundTitin (TTN) variants have been implicated in various types of cardiomyopathy. Allelic variant heterogeneity results in variable clinical phenotypes, which remains a major barrier for effective disease management. We aim to investigate the rel…
- Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunitypor Xiao P. Peng and John M. GreallyThe advent of next-generation sequencing has expanded our understanding of the genotypic, pathobiological, and phenotypic spectrum of human disease, helping to inform more personalized patient care. Current clinical guidelines are prompting the generat…
- Transcriptional Regulatory Modulation as a Potential Therapeutic Modalitypor Navneet Matharu and Nadav AhituvNumerous human diseases are caused by changes in gene expression levels. In addition, changing the expression levels of specific genes can lead to therapeutic benefits for several diseases. Systems using nuclease-deficient gene-editing proteins fused t…
- Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carrierspor Shemesh, S., Bernstein-Molho, R., Shoval, S., Laitman, Y., Madorsky-Feldman, D., Friedman, E., Elkon, R.BackgroundPenetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the involvement of genetic and non-geneti…
- ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancerpor Kasak, L., Rull, K., Valkna, A., Laan, M.Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to comm…
- The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predispositionpor Kasak, L., Rull, K., Valkna, A., Laan, M.DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogenic germline …
- Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencingpor Kasak, L., Rull, K., Valkna, A., Laan, M.Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse large B-cell …
- Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2por Kasak, L., Rull, K., Valkna, A., Laan, M.Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay,…
- Short-read genome sequencing at population scale: diagnostic insights from 2317 patientspor Søren L. FaergemanEuropean Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02089-8Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
- Rare solid tumours as indicators of hereditary cancer syndromespor Barbara RiveraEuropean Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02091-0Rare solid tumours as indicators of hereditary cancer syndromes