El Blog de SEBIGEC
Noticias y artículos de bioquímica y genética humana
Noticias
- Why the human brain matures slower than its primate relativespor Genetics News – Genetics Science, Genetics Technology, Genetics
- Rb1 identified as predictive biomarker for new therapeutic strategy in some breast cancerspor Genetics News – Genetics Science, Genetics Technology, Genetics
- Fathers’ microplastics exposure tied to their children’s metabolic problemspor Genetics News – Genetics Science, Genetics Technology, Genetics
- BRAF gene mutation leads to different therapeutic responses in melanoma and colorectal cancerpor Genetics News – Genetics Science, Genetics Technology, Genetics
- New clues to preventing stillbirth: Research highlights premature placental agingpor Genetics News – Genetics Science, Genetics Technology, Genetics
- Genes aren’t destiny for inherited blindness, study showspor Genetics News – Genetics Science, Genetics Technology, Genetics
- First comprehensive Great Steppe genomic dataset uncovers unique variantspor Genetics News – Genetics Science, Genetics Technology, Genetics
- Scientists build virtual tissue tools to map how cells talk in diseasepor Genetics News – Genetics Science, Genetics Technology, Genetics
- Major gaps block genetic evaluation and testing for Black and low income patients, study findspor Genetics News – Genetics Science, Genetics Technology, Genetics
- Homer1 gene calms the mind and improves attention in micepor Genetics News – Genetics Science, Genetics Technology, Genetics
- Improving diagnosis of aortic stenosis with genetics and AIpor Genetics News – Genetics Science, Genetics Technology, Genetics
- Genomic test helps flag early aggressive prostate cancer in African American patientspor Genetics News – Genetics Science, Genetics Technology, Genetics
- Scientists show targeting cancer stem cells can prevent gastric cancer recurrencepor Genetics News – Genetics Science, Genetics Technology, Genetics
- Cancer’s hidden ‘safety switch’: Silencing TAK1 gene could boost immunotherapy performancepor Genetics News – Genetics Science, Genetics Technology, Genetics
- Subtyping colorectal cancer may improve patient outcome predictionspor Genetics News – Genetics Science, Genetics Technology, Genetics
- Hidden ‘switches’ in DNA reveal new insights into Alzheimer’s diseasepor Genetics News – Genetics Science, Genetics Technology, Genetics
Artículos
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohortpor Thiloka E. RatnaikeEuropean Journal of Human Genetics, Published online: 27 December 2025; doi:10.1038/s41431-025-01990-yA systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort
- Exome sequencing points to pathogenic <i>ATM</i> variants in gastric cancerpor Laura L. KoebbeEuropean Journal of Human Genetics, Published online: 26 December 2025; doi:10.1038/s41431-025-01994-8Exome sequencing points to pathogenic ATM variants in gastric cancer
- Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in AustraliaIn this multi-laboratory validation study of 145 ovarian cancer samples, the SOPHiA DDM HRD Solution was compared with the regulatory-approved Myriad myChoice HRD assay to assess clinical comparability for Class 3 in-house in vitro diagnostic medical d…
- A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophypor John VissingEuropean Journal of Human Genetics, Published online: 24 December 2025; doi:10.1038/s41431-025-01991-xA homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
- Editorial Boardpor The Journal of Molecular Diagnostics
- Table of Contentspor The Journal of Molecular Diagnostics
- Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patientspor Abdel-Salam, G. M. H., Abdel-Hamid, M. S., Abdel-Ghafar, S. F., Girgis, M., Zaki, M. S.BackgroundBiallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2.MethodsWe describe the clinical and neuroimaging features o…
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndromepor Joana PereiraEuropean Journal of Human Genetics, Published online: 22 December 2025; doi:10.1038/s41431-025-01992-wHereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome
- Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutationDeleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive clinical de…
- Robert James McKinlay (“Mac”) Gardnerpor David J. AmorEuropean Journal of Human Genetics, Published online: 20 December 2025; doi:10.1038/s41431-025-01989-5Robert James McKinlay (“Mac”) Gardner
- Obstetric history of women with m.3243A>G: an observational cohort studypor Kuikka, P., Nikkinen, H., Majamaa, K., Martikainen, M. H.BackgroundMitochondrial diseases are genetic disorders arising from pathogenic variants in nuclear or mitochondrial DNA (mtDNA) characterised by respiratory chain dysfunction. Clinical manifestations are diverse, and treatment is mostly symptomatic. Mi…
- Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversionpor Pagnamenta, A. T., Hall, T. S., Wright, C. F., Baple, E. L.We read with interest the report by Janot et al describing an individual with elevated steroid precursors suggestive of 11β-hydroxylase deficiency and clinical features consistent with congenital adrenal hyperplasia (CAH).1 A single paternally inh…
- Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVRBackgroundFamilial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still a substantial number of genetica…
- Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetranceBackgroundThe BRCA2 c.8351G>A p.(Arg2784Gln) variant has long been classified as a variant of uncertain significance (VUS) due to conflicting evidence used in variant classification. This study aims to clarify its pathogenicity and associated risks …
- Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North ChinaThis large-scale retrospective study investigated the allele, diplotype, and phenotype frequencies of CYP2B6, CYP2C19, and CYP2D6 in a Han Chinese population (N>10,000), using real-world genetic data from the First Hospital of Hebei Medical University,…
- Dideoxy sequencing enhances detection of KIT mutations in GISTs initially evaluated by NGS hotspot panelspor Lisa Robinson, Sharleen Rapp, Weiwei Zhang, Jaclyn Pope, Allison M. Cushman-VokounGISTs are predominantly characterized by mutations in KIT or PDGFRA. Mutation detection is important for optimal therapy. NGS panels are useful in GIST assessment as they allow for simultaneous evaluation of multiple genes. However, inherent to use of …
- Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual DisabilityFew external quality assurance programs adequately address the complexity of large-scale human genome or exome analysis. To bridge this gap, Australian Genomics and the Royal College of Pathologists Australasia Quality Assurance Program (QAP) developed…
- Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 KitLarge-scale tumor molecular profiling has enabled the discovery of novel diagnostic, prognostic, and therapeutic biomarkers, while expanding the clinical utility of known alterations such as gene amplifications (GAMP), homozygous deletions (HMZ-Del), a…
- rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validationpor Xue ZhongIntroductionCongenital hypothyroidism (CH) is a metabolic disorder in newborns due to insufficient synthesis, abnormal secretion, or defective action of thyroid hormones. While newborn screening enables early detection, the precise etiology remains elu…
- Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney diseasepor Jingying XuAutosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodul…
- Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metforminpor Cristina SauIntroductionProgressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We…
- Application of next-generation sequencing to determine mutations in candidate genes for congenital eye malformations in the Mexican indigenous populationpor Iván Antonio García-Montalvo
- LRRC56 deficiency cause motile ciliopathies in humans and micepor Xiao-Hui XieIntroductionMotile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Althou…
- Sequencing every UK newborn: why cold storage economics should shape policypor Hearn, T.Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: where, and at what cost, will millions of genomes be …
- Neonatal-onset familial hemophagocytic lymphohistiocytosis: a case report with genetic confirmation of PRF1 mutationspor Xiaoyun LyuFamilial hemophagocytic lymphohistiocytosis (FHL) is a rare, inherited immune-dysregulation syndrome that can present in the neonatal period and progress rapidly without timely recognition. We report a full-term female who developed abdominal distensio…
- A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritispor Xiguang YeOsteoarthritis (OA) is a common chronic degenerative joint disease. Chondrocytes undergo dynamic changes during the pathogenesis of OA, and the destruction of the extracellular matrix (ECM) and its homeostatic disruption are hallmarks of OA. This study…
- Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative studypor Sarah MulhernEuropean Journal of Human Genetics, Published online: 14 December 2025; doi:10.1038/s41431-025-01988-6Young people’s experience of predictive genetic testing for inherited cardiac conditions: a qualitative study
- Cascade counselling and testing. Recommendations of the European Society of Human Geneticspor Guido de WertEuropean Journal of Human Genetics, Published online: 14 December 2025; doi:10.1038/s41431-025-01945-3Cascade counselling and testing. Recommendations of the European Society of Human Genetics
- Erratum: Transcriptional Control of Skeletogenesispor Gerard Karsenty
- CREATIONISM AND INTELLIGENT DESIGNpor Robert T. Pennock
- Positive Selection in the Human Genome: From Genome Scans to Biological Significancepor Joanna L. Kelley and Willie J. Swanson
- Phenotypic Outcomes of Imprinted Gene Models in Mice: Elucidation of Pre- and Postnatal Functions of Imprinted Genespor Mary A.M. Cleaton, Carol A. Edwards and Anne C. Ferguson-Smith
- The Genetics of Innocence: Analysis of 194 U.S. DNA Exonerationspor Greg Hampikian, Emily West and Olga Akselrod
- SEQUENCE
VARIATION IN GENES
AND GENOMIC DNA: Methods for
Large-Scale Analysispor Kalim U. Mir and Edwin M. Southern
- Issue Informationpor Wiley: Annals of Human Genetics: Table of ContentsAnnals of Human Genetics, Volume 90, Issue 1, January 2026.
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactionspor Ellard, H., Ali, J., Buxton, P., Bluebond-Langner, M., Lewis, C.BackgroundWhole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known about the process of communicating results from WGS to…
- Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectivespor Léa GaudillatEuropean Journal of Human Genetics, Published online: 09 December 2025; doi:10.1038/s41431-025-01980-0Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
- “The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models of carepor Sarah-Grace PaguintoEuropean Journal of Human Genetics, Published online: 09 December 2025; doi:10.1038/s41431-025-01971-1“The ability to get ahead”: Australian parent perspectives on genomics in newborn screening and considerations for potential models o…
- Early onset Arboleda-Tham syndrome due to KAT6A variants: Case reportpor Hongbo ChenBackgroundArboleda-Tham syndrome (ARTHS), caused by likely pathogenic or pathogenic variants in the KAT6A gene, is characterized by developmental delay, distinctive facial dysmorphic features, and congenital cardiac anomalies. ARTHS warrants considerat…
- The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual DisabilityAnnals of Human Genetics, EarlyView.
- Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxypor Shaojie MinIntroductionThe genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. Th…
- Functional classification of platelet gene variants using CRISPR HDR in CD34+ cell-derived megakaryocytesUsing CRISPR-edited CD34+ cells differentiated into megakaryocytes, CRIMSON HD models Glanzmann thrombasthenia phenotypes, providing a robust, lineage-relevant framework for functional testing and reclassification of clinically ambiguous variants in in…
- This month in The Journalpor Paul W. Hook, Alyson B. BarnesThrough paleogenomics, the study of ancient DNA (aDNA), scientists have been able to construct chronologies of human evolution, detailing interactions between Homo sapiens, other species, and past environments. Paleogenomics differs from modern genomic…
- Improving polygenic risk prediction performance by integrating electronic health records through phenotype embeddingpor Leqi Xu, Wangjie Zheng, Jiaqi Hu, Yingxin Lin, Jia Zhao, Gefei Wang, Tianyu Liu, Hongyu ZhaoEEPRS integrates electronic health record-derived phenotype embeddings with GWAS summary statistics to improve polygenic risk prediction. Using embedding methods such as Word2Vec and GPT, EEPRS enhances both single- and multi-trait PRS performance and …
- Genomic medicine year in review: 2025Starting in 2019, AJHG has published an annual feature1,2,3,4,5,6 identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group of …
- Transitions in interesting timespor Bruce R. KorfWhen I assumed the role of editor-in-chief of the American Journal of Human Genetics (AJHG) in January 2018, I introduced myself in an editorial entitled “Transitions in an era of disruptive change.”1 That proved to be an apt title, as will be outlined…
- Reconsidering a silent variant: <i>SGCA</i>’s role in atypical cardiomyopathypor Smadar Horowitz-CederboimEuropean Journal of Human Genetics, Published online: 04 December 2025; doi:10.1038/s41431-025-01981-zReconsidering a silent variant: SGCA’s role in atypical cardiomyopathy
- Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmiapor Seese, S. E., Reis, L. M., Schneider, A., Bardakjian, T., Semina, E. V.Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regions involvin…
- Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)Comprehensive genomic testing in routine cancer care pathways has created the need to interpret the consequences of somatic (acquired) genomic variants beyond the currently well-characterised driver variants in cancer gene hotspots. While several guide…
- Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencingpor Helen DollingEuropean Journal of Human Genetics, Published online: 01 December 2025; doi:10.1038/s41431-025-01987-7Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencing
- Subscription and Copyright Informationpor Trends in Genetics
- Advisory Board and Contentspor Trends in Genetics
- Correction: Individual and combined effects of the GSTM1, GSTT1, and GSTP1 polymorphisms on type 2 diabetes mellitus risk: a systematic review and meta-analysispor Liang-shu Liu
- Correction: MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s diseasepor Yan Zhang
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between <i>TPMT</i>/<i>NUDT15</i> and thiopurinespor Marieke J. H. CoenenEuropean Journal of Human Genetics, Published online: 29 November 2025; doi:10.1038/s41431-025-01986-8Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between TPMT/NUDT15 and thiopurines
- When clinical genetics turns the risk lens on itselfpor Michaela CormackEuropean Journal of Human Genetics, Published online: 29 November 2025; doi:10.1038/s41431-025-01985-9When clinical genetics turns the risk lens on itself
- Enhanced Detection of EGFRvIII in Tumors: A Comparative Study of Split Read and Read Depth-Based DNA Sequencing Approachespor Nan Chen, Jingjing Feng, Dong Wan, Dongbing Li, Sheng XiaoEpidermal Growth Factor Receptor variant III (EGFRvIII), a common oncogenic variant in glioblastoma (GBM) and other solid tumors, results from an in-frame deletion of exons 2–7 in the EGFR gene. Detection of EGFRvIII is crucial for understanding tumor …
- Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testingpor Aiko Iwata-OtsuboSpinal muscular atrophy [SMA; Online Mendelian Inheritance in Man (OMIM), https://omim.org/entry/253300, last accessed 11/19/2025)] is a genetic disorder characterized by progressive muscle weakness due to degeneration of motor neurons in the spinal co…
- Highly Sensitive Detection of Donor Chimerism by Next-Generation SequencingDonor chimerism analysis is used for monitoring engraftment status and risk of disease relapse following allogeneic stem cell transplantation. Recently developed assays using next generation sequencing (NGS) have demonstrated enhanced sensitivity and a…
- Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal TumorsOptical genome mapping (OGM) enables high-resolution detection of structural variants (SVs) and copy number aberrations (CNAs) using ultra-long DNA molecules and minimal bioinformatics processing. Its diagnostic utility in solid tumors remains underexp…