Volume 17, issue 1, December 2023
116 articles in this issue
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The Human Genome Organisation (HUGO) and a vision for Ecogenomics: the Ecological Genome Project
Authors (first, second and last of 9)
- Benjamin Capps
- Ruth Chadwick
- HUGO Committee on Ethics, Law and Society
- Content type: Perspective
- Open Access
- Published: 18 December 2023
- Article: 115
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What is the functional reach of wastewater surveillance for respiratory viruses, pathogenic viruses of concern, and bacterial antibiotic resistance genes of interest?
Authors (first, second and last of 6)
- Kevin J. Sokoloski
- Rochelle H. Holm
- Ted Smith
- Content type: Perspective
- Open Access
- Published: 18 December 2023
- Article: 114
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Mitochondrial DNA copy number variation across three generations: a possible biomarker for assessing perinatal outcomes
Authors
- Hisanori Fukunaga
- Atsuko Ikeda
- Content type: Research
- Open Access
- Published: 15 December 2023
- Article: 113
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LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL)
Authors (first, second and last of 14)
- Veronica Tisato
- Alessandro Castiglione
- Donato Gemmati
- Content type: Research
- Open Access
- Published: 14 December 2023
- Article: 112
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Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families
Authors (first, second and last of 11)
- Xiuqin Bao
- Danqing Qin
- Aihua Yin
- Content type: Research
- Open Access
- Published: 08 December 2023
- Article: 111
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Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity
Authors (first, second and last of 13)
- Felipe Gouvea de Souza
- Moisés Batista da Silva
- Giovanna C. Cavalcante
- Content type: Research
- Open Access
- Published: 08 December 2023
- Article: 110
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Triangulating nutrigenomics, metabolomics and microbiomics toward personalized nutrition and healthy living
Authors
- George Lagoumintzis
- George P. Patrinos
- Content type: Review
- Open Access
- Published: 08 December 2023
- Article: 109
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MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Authors (first, second and last of 6)
- Shuangshuang Huang
- Zhaoyu Wu
- Hao Wang
- Content type: Research
- Open Access
- Published: 27 November 2023
- Article: 108
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Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
Authors (first, second and last of 6)
- Qiong Lan
- Yifeng Lin
- Bofeng Zhu
- Content type: Research
- Open Access
- Published: 27 November 2023
- Article: 107
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A case–control comparison of acute-phase peripheral blood gene expression in participants diagnosed with minor ischaemic stroke or stroke mimics
Authors (first, second and last of 10)
- Joseph V. Moxon
- Andrew Calcino
- Jonathan Golledge
- Content type: Research
- Open Access
- Published: 25 November 2023
- Article: 106
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Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling
Authors
- Magnus Ingelman-Sundberg
- Daniel W. Nebert
- Volker M. Lauschke
- Content type: Editorial
- Open Access
- Published: 24 November 2023
- Article: 105
This is part of 1 collection: -
Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
Authors (first, second and last of 5)
- Rima Mustafa
- Mohsen Ghanbari
- Abbas Dehghan
- Content type: Research
- Open Access
- Published: 24 November 2023
- Article: 104
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Dispersed DNA variants underlie hearing loss in South Florida’s minority population
Authors (first, second and last of 16)
- LéShon Peart
- Joanna Gonzalez
- Mustafa Tekin
- Content type: Research
- Open Access
- Published: 24 November 2023
- Article: 103
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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023
Authors (first, second and last of 39)
- Caio Robledo D’Angioli Costa Quaio
- José Ricardo Magliocco Ceroni
- Joao Bosco de Oliveira Filho
- Content type: Research
- Open Access
- Published: 16 November 2023
- Article: 102
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Identification of genetic loci jointly influencing COVID-19 and coronary heart diseases
Authors (first, second and last of 19)
- Siyue Wang
- Hexiang Peng
- Tao Wu
- Content type: Research
- Open Access
- Published: 14 November 2023
- Article: 101
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Genetic evidence for the causal association between type 1 diabetes and the risk of polycystic ovary syndrome
Authors
- Shuwen Chen
- Zaixin Guo
- Qi Yu
- Content type: Research
- Open Access
- Published: 13 November 2023
- Article: 100
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The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity
Authors (first, second and last of 10)
- Elena De Mattia
- Jerry Polesel
- Erika Cecchin
- Content type: Research
- Open Access
- Published: 09 November 2023
- Article: 99
This is part of 2 collections: -
The attitude and behaviors of the different spheres of the community of the United Arab Emirates toward the clinical utility and bioethics of secondary genetic findings: a cross-sectional study
Authors (first, second and last of 4)
- Azhar T. Rahma
- Aminu S. Abdullahi
- Iffat Elbarazi
- Content type: Research
- Open Access
- Published: 06 November 2023
- Article: 98
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Comprehensive analysis of alternative splicing across multiple transcriptomic cohorts reveals prognostic signatures in prostate cancer
Authors (first, second and last of 4)
- Zhuofan Mou
- Jack Spencer
- Lorna W. Harries
- Content type: Research
- Open Access
- Published: 03 November 2023
- Article: 97
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Multidimensional fragmentomic profiling of cell-free DNA released from patient-derived organoids
Authors (first, second and last of 11)
- Jaeryuk Kim
- Seung-Pyo Hong
- Jong-Il Kim
- Content type: Research
- Open Access
- Published: 28 October 2023
- Article: 96
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The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants
Authors (first, second and last of 8)
- Maria Petrosino
- Leonore Novak
- Roberta Chiaraluce
- Content type: Research
- Open Access
- Published: 27 October 2023
- Article: 95
This is part of 1 collection: -
Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Authors
- Clemens Falker-Gieske
- Content type: Research
- Open Access
- Published: 23 October 2023
- Article: 94
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FGFR1 variants contributed to families with tooth agenesis
Authors (first, second and last of 9)
- Siyue Yao
- Xi Zhou
- Yongchu Pan
- Content type: Research
- Open Access
- Published: 13 October 2023
- Article: 93
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Epigenomic signature of major congenital heart defects in newborns with Down syndrome
Authors (first, second and last of 9)
- Julia S. Mouat
- Shaobo Li
- Janine M. LaSalle
- Content type: Research
- Open Access
- Published: 06 October 2023
- Article: 92
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Authors (first, second and last of 9)
- Mianne Lee
- Adrian C. Y. Lui
- Brian H. Y. Chung
- Content type: Research
- Open Access
- Published: 05 October 2023
- Article: 91
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Decoding cell-type contributions to the cfRNA transcriptomic landscape of liver cancer
Authors
- Aram Safrastyan
- Christian Höner zu Siederdissen
- Damian Wollny
- Content type: Research
- Open Access
- Published: 05 October 2023
- Article: 90
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Mendelian randomization analysis reveals fresh fruit intake as a protective factor for urolithiasis
Authors (first, second and last of 6)
- Yiwei Lin
- Cheng Zhou
- Xiangyi Zheng
- Content type: Research
- Open Access
- Published: 03 October 2023
- Article: 89
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Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
Authors (first, second and last of 16)
- Susanna Nousiainen
- Outi Kuismin
- Pia Vahteristo
- Content type: Research
- Open Access
- Published: 03 October 2023
- Article: 88
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The causal relationship between COVID-19 and seventeen common digestive diseases: a two-sample, multivariable Mendelian randomization study
Authors (first, second and last of 5)
- Zhiqi Wang
- Huanyu Zhou
- Haishan Huang
- Content type: Database
- Open Access
- Published: 26 September 2023
- Article: 87
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ANXA1 is identified as a key gene associated with high risk and T cell infiltration in primary sclerosing cholangitis
Authors (first, second and last of 5)
- Jian Zhang
- Huiwen Wang
- Shifang Peng
- Content type: Research
- Open Access
- Published: 21 September 2023
- Article: 86
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Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
Authors (first, second and last of 6)
- Ainhoa Pascual-Alonso
- Clara Xiol
- Judith Armstrong
- Content type: Research
- Open Access
- Published: 15 September 2023
- Article: 85
This is part of 2 collections: -
Generation and characterization of a zebrafish knockout model of abcb4, a homolog of the human multidrug efflux transporter P-glycoprotein
Authors (first, second and last of 5)
- Jinhee Park
- Hyosung Kim
- Hassane Mchaourab
- Content type: Research
- Open Access
- Published: 06 September 2023
- Article: 84
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RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome
Authors
- Esteban J. Rozen
- Christopher D. Ozeroff
- Mary Ann Allen
- Content type: Review
- Open Access
- Published: 05 September 2023
- Article: 83
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Genetics in ophthalmology: molecular blueprints of retinoblastoma
Authors (first, second and last of 5)
- Leon Marković
- Anja Bukovac
- Nives Pećina-Šlaus
- Content type: Review
- Open Access
- Published: 01 September 2023
- Article: 82
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A genome-wide cross-trait analysis identifies genomic correlation, pleiotropic loci, and causal relationship between sex hormone-binding globulin and rheumatoid arthritis
Authors (first, second and last of 6)
- Yuan Jiang
- Qianwen Liu
- Xia Jiang
- Content type: Research
- Open Access
- Published: 29 August 2023
- Article: 81
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An AI-powered patient triage platform for future viral outbreaks using COVID-19 as a disease model
Authors (first, second and last of 27)
- Georgia Charkoftaki
- Reza Aalizadeh
- Vasilis Vasiliou
- Content type: Research
- Open Access
- Published: 29 August 2023
- Article: 80
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Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Authors (first, second and last of 12)
- Sara Silvaieh
- Theresa König
- Alexander Zimprich
- Content type: Correction
- Open Access
- Published: 28 August 2023
- Article: 79
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The RNA m6A modification might participate in microglial activation during hypoxic–ischemic brain damage in neonatal mice
Authors (first, second and last of 9)
- Xiaojuan Su
- Lingyi Huang
- Dezhi Mu
- Content type: Research
- Open Access
- Published: 25 August 2023
- Article: 78
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Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China
Authors (first, second and last of 12)
- Tong Yang
- Xuemei Luo
- Tianyu Zhong
- Content type: Research
- Open Access
- Published: 17 August 2023
- Article: 77
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Developing neural network diagnostic models and potential drugs based on novel identified immune-related biomarkers for celiac disease
Authors (first, second and last of 4)
- Tao Shen
- Haiyang Wang
- Yanni Lv
- Content type: Research
- Open Access
- Published: 17 August 2023
- Article: 76
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Determining the utility of diagnostic genomics: a conceptual framework
Authors (first, second and last of 5)
- Andrew Mallett
- Zornitza Stark
- Ilias Goranitis
- Content type: Perspective
- Open Access
- Published: 16 August 2023
- Article: 75
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Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Authors (first, second and last of 17)
- Ning-Yuan Lee
- Melissa Hum
- Ann S. G. Lee
- Content type: Correction
- Open Access
- Published: 14 August 2023
- Article: 74
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The application of long-read sequencing in clinical settings
Authors (first, second and last of 5)
- Josephine B. Oehler
- Helen Wright
- Ulf Schmitz
- Content type: Review
- Open Access
- Published: 08 August 2023
- Article: 73
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Total RNA sequencing reveals gene expression and microbial alterations shared by oral pre-malignant lesions and cancer
Authors (first, second and last of 9)
- Mohammed Muzamil Khan
- Jennifer Frustino
- Stefano Monti
- Content type: Research
- Open Access
- Published: 04 August 2023
- Article: 72
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Transcriptome and proteome analysis reveals the anti-cancer properties of Hypnea musciformis marine macroalga extract in liver and intestinal cancer cells
Authors (first, second and last of 14)
- Rodiola Begolli
- Myrto Chatziangelou
- Antonis Giakountis
- Content type: Research
- Open Access
- Published: 31 July 2023
- Article: 71
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Mitochondrial genome study in blood of maternally inherited ALS cases
Authors (first, second and last of 11)
- Sarah J. Brockmann
- Eva Buck
- Karin M. Danzer
- Content type: Research
- Open Access
- Published: 28 July 2023
- Article: 70
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CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes
Authors (first, second and last of 14)
- Chaonan Zhu
- Nina Baumgarten
- Jaya Krishnan
- Content type: Research
- Open Access
- Published: 25 July 2023
- Article: 69
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COVID-19 annual update: a narrative review
Authors (first, second and last of 13)
- Michela Biancolella
- Vito Luigi Colona
- Juergen K. V. Reichardt
- Content type: Review
- Open Access
- Published: 24 July 2023
- Article: 68
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Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent
Authors (first, second and last of 4)
- Antonella De Lillo
- Frank R. Wendt
- Renato Polimanti
- Content type: Research
- Open Access
- Published: 20 July 2023
- Article: 67