You are currently viewing a new version of our website. To view the old version click .

Genes, Volume 15, Issue 1

January 2024 - 139 articles

Cover Story: In the relentless pursuit of unraveling the our genetic code, the fusion of machine learning and human genetic data is starting a new era in genetic association studies, promising unprecedented insights. As we acknowledge the multitude of genetic factors influencing human traits, machine learning steps in to unravel the complexities in polygenic architectures. This breakthrough not only enhances our comprehension of genetic landscapes but also promise more accurate diagnostics and targeted interventions, in personalized medicine. As we embark on this journey, ethical considerations, limitations and trustworthiness loom large. Balancing the transformative potential of machine learning with biases demands a meticulous approach. In the article that follow, we delve into the use of machine learning in a particular area of genetics, the genome-wide association studies. View this paper
  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
  • You may sign up for email alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.

Articles (139)

  • Article
  • Open Access
4 Citations
2,457 Views
12 Pages

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

  • Andrea Hadjipanteli,
  • Athina Theodosiou,
  • Ioannis Papaevripidou,
  • Paola Evangelidou,
  • Angelos Alexandrou,
  • Nicole Salameh,
  • Ioannis Kallikas,
  • Kyriakos Kakoullis,
  • Sofia Frakala and
  • Christina Oxinou
  • + 4 authors

18 January 2024

Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephal...

  • Review
  • Open Access
1 Citations
3,983 Views
16 Pages

18 January 2024

Richard Peto’s paradox, first described in 1975 from an epidemiological perspective, established an inverse correlation between the probability of developing cancer in multicellular organisms and the number of cells. Larger animals exhibit fewe...

  • Article
  • Open Access
2 Citations
2,537 Views
17 Pages

Optimizing Analytical Thresholds for Low-Template DNA Analysis: Insights from Multi-Laboratory Negative Controls

  • Dezhi Chen,
  • Mengyu Tan,
  • Jiaming Xue,
  • Mengna Wu,
  • Jinlong Song,
  • Qiushuo Wu,
  • Guihong Liu,
  • Yazi Zheng,
  • Yuanyuan Xiao and
  • Meili Lv
  • + 3 authors

18 January 2024

When analyzing challenging samples, such as low-template DNA, analysts aim to maximize information while minimizing noise, often by adjusting the analytical threshold (AT) for optimal results. A potential approach involves calculating the AT based on...

  • Article
  • Open Access
2 Citations
3,047 Views
35 Pages

Molecular Characterization and Genome Mechanical Features of Two Newly Isolated Polyvalent Bacteriophages Infecting Pseudomonas syringae pv. garcae

  • Erica C. Silva,
  • Carlos A. Quinde,
  • Basilio Cieza,
  • Aakash Basu,
  • Marta M. D. C. Vila and
  • Victor M. Balcão

18 January 2024

Coffee plants have been targeted by a devastating bacterial disease, a condition known as bacterial blight, caused by the phytopathogen Pseudomonas syringae pv. garcae (Psg). Conventional treatments of coffee plantations affected by the disease invol...

  • Article
  • Open Access
2 Citations
1,844 Views
12 Pages

18 January 2024

Revealing plant–pathogen interactions is important for resistance breeding, but it remains a complex process that presents many challenges. Marssonina leaf spot of poplars (MLSP) is the main disease in poplars; in China, its pathogens consist o...

  • Article
  • Open Access
6 Citations
2,495 Views
15 Pages

18 January 2024

Programmed cell death (PCD) is a critical process in plant immunity, enabling the targeted elimination of infected cells to prevent the spread of pathogens. The tight regulation of PCD within plant cells is well-documented; however, specific mechanis...

  • Communication
  • Open Access
1 Citations
3,565 Views
7 Pages

Idiopathic Epilepsy Risk Allele Trends in Belgian Tervuren: A Longitudinal Genetic Analysis

  • Nathan Kinsey,
  • Janelle M. Belanger,
  • Paul J. J. Mandigers,
  • Peter A. Leegwater,
  • Tiina Heinonen,
  • Marjo K. Hytönen,
  • Hannes Lohi,
  • Elaine A. Ostrander and
  • Anita M. Oberbauer

18 January 2024

Idiopathic epilepsy (IE) has been known to be inherited in the Belgian Tervuren for many decades. Risk genotypes for IE in this breed have recently been identified on Canis familiaris chromosomes (CFA) 14 and 37. In the current study, the allele freq...

  • Case Report
  • Open Access
2 Citations
2,576 Views
10 Pages

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome

  • Matheus V. M. B. Wilke,
  • Myra Wick,
  • Tanya L. Schwab,
  • Rodrigo Tzovenos Starosta,
  • Karl J. Clark,
  • Heidi M. Connolly and
  • Eric W. Klee

18 January 2024

The LMNA gene encodes lamin A and lamin C, which play important roles in nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of disorders with diverse phenotypes. There are two main groups of disease-causing variants: misse...

  • Article
  • Open Access
2,165 Views
13 Pages

The Mitogenomic Characterization and Phylogenetic Analysis of the Plant Pathogen Phyllosticta yuccae

  • Hui Xu,
  • Ziyi Zhu,
  • Zeyuan Tian,
  • Cuiyuan Wei,
  • Qi Fan,
  • Yuanbing Wang,
  • Shikang Shen,
  • Gang Deng and
  • Mingliang Ding

17 January 2024

Phyllosticta yuccae is an important plant pathogen causing leaf spot disease in Yucca gigantea Lem. It is imperative to note that the amount of information available about the mitogenome of this subject is severely limited. This must be addressed imm...

  • Article
  • Open Access
4 Citations
2,413 Views
18 Pages

17 January 2024

The MYB transcription factor gene family is among the most extensive superfamilies of transcription factors in plants and is involved in various essential functions, such as plant growth, defense, and pigment formation. Salvia nemorosa is a perennial...

of 14

Get Alerted

Add your email address to receive forthcoming issues of this journal.

XFacebookLinkedIn
Genes - ISSN 2073-4425