NPJ Genomic Medicine最新文献_第2页

Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants. 功能相关基因的基因组多样性改变了种系PTEN变异个体的神经发育与肿瘤风险。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-20 DOI: 10.1038/s41525-025-00495-3

Adriel Y Kim, Lamis Yehia, Charis Eng

{"title":"Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.","authors":"Adriel Y Kim, Lamis Yehia, Charis Eng","doi":"10.1038/s41525-025-00495-3","DOIUrl":"10.1038/s41525-025-00495-3","url":null,"abstract":"Individuals with germline PTEN variants (PHTS) have increased risks of the seemingly disparate phenotypes of cancer and neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD). Etiology of the phenotypic variability remains elusive. Here, we hypothesized that decreased genomic diversity, manifested by increased homozygosity, may be one etiology. Comprehensive analyses of 376 PHTS patients of European ancestry revealed significant enrichment of homozygous common variants in genes involved in inflammatory processes in the PHTS-NDD group and in genes involved in differentiation and chromatin structure regulation in the PHTS-ASD group. Pathway analysis revealed pathways germane to NDD/ASD, including neuroinflammation and synaptogenesis. Collapsing analysis of the homozygous variants identified suggestive modifier NDD/ASD genes. In contrast, we found enrichment of homozygous ultra-rare variants in genes modulating cell death in the PHTS-cancer group. Finally, homozygosity burden as a predictor of ASD versus cancer outcomes in our validated prediction model for NDD/ASD performed favorably.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"43"},"PeriodicalIF":4.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease. KIF1B基因的一种超罕见错义变异与自身炎症性meni<e:1>病有关。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-20 DOI: 10.1038/s41525-025-00503-6

Pablo Cruz-Granados, Giselle Bianco-Bortoletto, Ismael Aran, Victoria Rivero de Jesus, Jose A Lopez-Escamez

{"title":"An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease.","authors":"Pablo Cruz-Granados, Giselle Bianco-Bortoletto, Ismael Aran, Victoria Rivero de Jesus, Jose A Lopez-Escamez","doi":"10.1038/s41525-025-00503-6","DOIUrl":"10.1038/s41525-025-00503-6","url":null,"abstract":"Menière's disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response. We hypothesise that rare variation in immune response genes could drive the autoinflammatory phenotype in MD. We retrieved differentially expressed genes (DEG) from single-cell RNAseq and epigenomic datasets to search for rare variants in the MD exome (N = 454) and genome (N = 511) sequencing datasets. The variant chr1:10374335 C > T in the KIF1B gene was found in three MD unrelated individuals and was predicted to be likely pathogenic. According to differential transcript usage, transcript ENST00000622724.3 was found in MD samples, but absent in controls. Furthermore, this variant may influence splicing through the generation of exonic enhancers and silencers, potentially changing transcription factor binding at the promoter. These findings support that this KIF1B gene rare variant is associated with the MD autoinflammatory phenotype and may up-regulate its expression in monocytes.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"42"},"PeriodicalIF":4.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12092769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report. 遗传性癌症基因检测诊断骨髓增生异常综合征1例报告。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-15 DOI: 10.1038/s41525-025-00476-6

Sarah Ridd, Larissa Peck, Aniket Bankar, George S Charames, Jordan Lerner-Ellis, Radhika Mahajan, Peter J B Sabatini, Andrew Wong, Janet Malcolmson, Raymond H Kim

{"title":"Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.","authors":"Sarah Ridd, Larissa Peck, Aniket Bankar, George S Charames, Jordan Lerner-Ellis, Radhika Mahajan, Peter J B Sabatini, Andrew Wong, Janet Malcolmson, Raymond H Kim","doi":"10.1038/s41525-025-00476-6","DOIUrl":"https://doi.org/10.1038/s41525-025-00476-6","url":null,"abstract":"Genetic testing for solid tumor syndromes typically uses peripheral blood leukocytes (PBL) as the source of germline DNA. This approach has shortcomings in certain situations, such as somatic mosaicism and hematologic malignancies. Here we describe a case where germline genetic testing on PBL revealed an unsuspected diagnosis of myelodysplastic syndrome (MDS). A 68-year-old male with a history of three solid tumors and a significant family history of cancer underwent germline genetic testing with a 76-gene hereditary cancer panel. Initial testing using PBL revealed deletions of the entire APC and CTNNA1 genes, suggestive of a contiguous deletion of chromosome 5 (del(5q)). Subsequent testing on cultured fibroblasts was negative, indicating the deletions were somatic. Bone marrow analysis confirmed the presence of del(5q) and a diagnosis of MDS. This case demonstrates the potential to uncover hematologic disorders through hereditary cancer genetic testing, emphasizing the importance of careful results interpretation, multidisciplinary follow-up, and DNA source selection.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"39"},"PeriodicalIF":4.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders. 探索grin相关神经发育障碍的基因-表型关系。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-15 DOI: 10.1038/s41525-025-00499-z

Jong Ho Cha, Jee Min Kim, Hee-Jeong Yun, Hyungjin Chin, Hye Jin Kim, Woojoong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Seungbok Lee, Jong-Hee Chae

{"title":"Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders.","authors":"Jong Ho Cha, Jee Min Kim, Hee-Jeong Yun, Hyungjin Chin, Hye Jin Kim, Woojoong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Seungbok Lee, Jong-Hee Chae","doi":"10.1038/s41525-025-00499-z","DOIUrl":"10.1038/s41525-025-00499-z","url":null,"abstract":"The GRIN family is implicated in neurological disorders, such as global developmental delay (GDD) and epilepsy. We reviewed 31 patients with GRIN-related neurodevelopmental disorders at Seoul National University Hospital; all exhibited profound GDD, with 58.1% unable to walk independently and 74.2% unable to speak meaningful words. In a pooled analysis with the GRIN portal data ( https://grin-portal.broadinstitute.org/ ), patients with missense or in-frame variants had significantly higher rates of profound GDD (74.3% vs. 30.4%, p < 0.001) and movement disorders (69.0% vs. 41.4%, p < 0.01) than those with protein-truncating variants. Furthermore, missense or in-frame variants in the M3 and M4 helices of the transmembrane domain were significantly associated with profound GDD (M3 helix: adjusted odds ratio [aOR] 8.48; 95% confidence interval [CI] 2.79-25.76; M4 helix: aOR 3.14; 95% CI 1.39-7.09) compared to those in other domains. Our findings highlight the importance of detailed variant characterization to inform personalized treatment strategies.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"40"},"PeriodicalIF":4.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel germline and somatic variants in familial and sporadic meningioma genes. 家族性和散发性脑膜瘤基因的新种系和体细胞变异。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-15 DOI: 10.1038/s41525-025-00494-4

Bouchra Ouled Amar Bencheikh, Allison A Dilliott, Julie Gauthier, Sandra Beatrice Laurent, Amirthagowri Ambalavanan, Dan Spiegelman, Alexandre Dionne-Laporte, Jaber Lyahyai, Robert L Martuza, Jörn P Sieb, Sali M K Farhan, Patrick A Dion, Stefan-M Pulst, Guy A Rouleau

{"title":"Novel germline and somatic variants in familial and sporadic meningioma genes.","authors":"Bouchra Ouled Amar Bencheikh, Allison A Dilliott, Julie Gauthier, Sandra Beatrice Laurent, Amirthagowri Ambalavanan, Dan Spiegelman, Alexandre Dionne-Laporte, Jaber Lyahyai, Robert L Martuza, Jörn P Sieb, Sali M K Farhan, Patrick A Dion, Stefan-M Pulst, Guy A Rouleau","doi":"10.1038/s41525-025-00494-4","DOIUrl":"10.1038/s41525-025-00494-4","url":null,"abstract":"Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in nine potential novel meningioma genes across four families and four sporadic cases. We then screened for germline and somatic variants in these genes and 11 known meningioma genes in 76 sporadic meningiomas blood/tumor pairs. We identified 18 germline and 58 somatic variants in 18 of the 20 genes, including seven of our newly proposed meningioma genes: CSMD3, EXTL3, FAT3, RAB44, RARA, RECQL4, and TNRC6A. Chromosomal abnormalities were identified in 39 of 49 tumors that also carried germline or somatic variants, with 71.8% encompassing NF2. This study provides potential novel genetic risk factors of meningiomas appropriate for further exploration from the greater scientific community and pathways to consider in the design of future therapeutic approaches.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"41"},"PeriodicalIF":4.7,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. 通过新生儿筛查和下一代测序鉴定的男性马赛克x连锁肾上腺脑白质营养不良。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-09 DOI: 10.1038/s41525-025-00497-1

Alexandra C Keefe, Dana M Jensen, Meranda M Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M Morrow, Paul Kruszka, Divya Vats, Bianca E Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O'Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D Sperry, Barbara E Hallinan, Rebecca Tryon, Troy C Lund, Florian S Eichler, Angela Sun, James T Bennett

{"title":"Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.","authors":"Alexandra C Keefe, Dana M Jensen, Meranda M Pham, Natalie Y T Au, Erika Beckman, Monica Penon-Portmann, Emily Shelkowitz, Renee Bend, Michelle M Morrow, Paul Kruszka, Divya Vats, Bianca E Russell, Erica Chan, Derek Wong, Ahna Rabani, Lauren O'Grady, Inderneel Sahai, Kimberly Widmeyer, Ethan D Sperry, Barbara E Hallinan, Rebecca Tryon, Troy C Lund, Florian S Eichler, Angela Sun, James T Bennett","doi":"10.1038/s41525-025-00497-1","DOIUrl":"https://doi.org/10.1038/s41525-025-00497-1","url":null,"abstract":"Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition of low-level mosaicism, which remains technically challenging, particularly for X-linked genes. Here, we identify six males with mosaic X-linked adrenoleukodystrophy (X-ALD), a neurometabolic peroxisomal disorder caused by pathogenic variants in ABCD1 that is currently included in 44 state newborn screening (NBS) programs, and estimate the incidence of somatic mosaicism. Of 227 males from 2 laboratories performing ABCD1 next-generation sequencing, 1.8% (4/227) had pathogenic or likely pathogenic ABCD1 variants that were mosaic. In one mosaic male individual, allele-specific measurements across multiple tissues demonstrated ABCD1 variant allele fractions ranging from 66 to 82%. Our findings have implications for the identification of X-ALD through NBS, and additional studies could provide insight into the pathogenesis and natural history of X-ALD.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"38"},"PeriodicalIF":4.7,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact. 对161个序列变化的TP53小基因分析为空间约束和调控元件在变异体诱导剪接影响中的作用提供了证据。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-08 DOI: 10.1038/s41525-025-00498-0

Daffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Miguel de la Hoya, Amanda B Spurdle, Eladio A Velasco-Sampedro

{"title":"TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.","authors":"Daffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Miguel de la Hoya, Amanda B Spurdle, Eladio A Velasco-Sampedro","doi":"10.1038/s41525-025-00498-0","DOIUrl":"https://doi.org/10.1038/s41525-025-00498-0","url":null,"abstract":"We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36. A diagnostically reported deletion c.655_670del, overlapping an SRE-rich interval, induced an in-frame transcript Δ(E6q21) from new donor site usage. Deletion of at least four intron 6 G-runs led to 100% aberrant transcript expression. Additionally, assay results suggested a donor-to-branchpoint distance <50 nt for complete splicing aberration due to spatial constraint, and >75 nt for low risk of splicing abnormality. Overall, splicing data for 134 single nucleotide variants (SNVs) and 27 deletions in TP53 demonstrated that SRE-disrupting SNVs have weak splicing impact (up to 26% exon skipping), while deletions spanning multiple SREs have profound splicing effects. Our findings may prove relevant for identifying novel germline TP53 variants causing hereditary cancer predisposition and/or somatic variants contributing to tumorigenesis.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"37"},"PeriodicalIF":4.7,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis. 一种异常方法：通过将蛋白质组学整合到多组学指导外显子组再分析中来推进神经系统疾病的诊断。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-03 DOI: 10.1038/s41525-025-00493-5

Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente A Yépez, Julien Gagneur, Christopher Chun-Yu Mak, Brian Hon-Yin Chung

{"title":"An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.","authors":"Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente A Yépez, Julien Gagneur, Christopher Chun-Yu Mak, Brian Hon-Yin Chung","doi":"10.1038/s41525-025-00493-5","DOIUrl":"https://doi.org/10.1038/s41525-025-00493-5","url":null,"abstract":"Neurodevelopmental disorders (NDDs) often have unknown genetic causes. Current efforts in identifying disease-related genetic variants using exome or genome sequencing still lead to an excessive number of variants of uncertain significance (VUS). There is an increasing interest in transcriptomics and, more recently, proteomics for variant detection and interpretation. In this study, we integrated quantitative liquid chromatography-mass spectrometry proteomics, RNA sequencing, and exome reanalysis to resolve VUS and detect novel causal variants in 34 patients with undiagnosed NDDs, using the software PROTRIDER and DROP to detect protein outliers and RNA outliers, respectively. We obtained a diagnosis in 11 cases (32%) resulting from the increased amount of information provided by the two additional levels of omics (n = 5) and the updated literature evidence (n = 6). Our experience suggests the potential of this outlier-detection multi-omics workflow for improving diagnostic yield in NDDs and other rare disorders.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"36"},"PeriodicalIF":4.7,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multi-omic integration sets the path for early prevention strategies on healthy individuals. 多基因组整合为健康个体的早期预防战略奠定了基础。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-05-03 DOI: 10.1038/s41525-025-00491-7

Dimitrios Kioroglou, Rubén Gil-Redondo, Nieves Embade, Maider Bizkarguenaga, Ricardo Conde, Oscar Millet, José M Mato, Urko M Marigorta

{"title":"Multi-omic integration sets the path for early prevention strategies on healthy individuals.","authors":"Dimitrios Kioroglou, Rubén Gil-Redondo, Nieves Embade, Maider Bizkarguenaga, Ricardo Conde, Oscar Millet, José M Mato, Urko M Marigorta","doi":"10.1038/s41525-025-00491-7","DOIUrl":"https://doi.org/10.1038/s41525-025-00491-7","url":null,"abstract":"Precision medicine requires biomarkers that stratify patients and improve clinical outcomes. Although longitudinal multi-omic analyses provide insights into pathological states, their utility in stratifying healthy individuals remains underexplored. We performed a cross-sectional integrative study of three omic layers, including genomics, urine metabolomics, and serum metabolomics/lipoproteomics, on a cohort of 162 individuals without pathological manifestations. We studied each omic layer separately and after integration, concluding that multi-omic integration provides optimal stratification capacity. We identified four subgroups and, for a subset of 61 individuals, longitudinal data for two additional time-points allowed us to evaluate the temporal stability of the molecular profiles of each identified subgroup. Additional functional annotation uncovered accumulation of risk factors associated with dyslipoproteinemias in one subgroup, suggesting targeted monitoring could reduce future cardiovascular risks. Overall, our methodology uncovers the potential of multi-omic profiling to serve as a framework for precision medicine aimed at early prevention strategies.","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"35"},"PeriodicalIF":4.7,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Australian LINEAGE Study: advancing and implementing international guidance on genomic data within local governance frameworks. 澳大利亚血统研究：在地方治理框架内推进和实施基因组数据的国际指导。

IF 4.7 2区医学

NPJ Genomic Medicine Pub Date : 2025-04-30 DOI: 10.1038/s41525-025-00492-6

Tamra Lysaght, Rachel Ankeny, Alex Brown, Rebekah McWhirter, Dianne Nicol, Margaret Otlowski, Bernadette Richards, Ainsley J Newson

引用次数: 0