Genomic medicine
View article: Genetic Counseling in Nephrology: Challenges and Opportunities
Genetic Counseling in Nephrology: Challenges and Opportunities Open
Genetic testing is increasingly used in nephrology to diagnose hereditary kidney diseases, guide therapy, and inform transplant decisions. However, integrating genetic data into routine care presents ethical, logistical, and psychosocial c…
View article: Analysis of perioperative chemotherapy-mediated genomic changes in gastric cancer
Analysis of perioperative chemotherapy-mediated genomic changes in gastric cancer Open
View article: Evaluation of the Integration of Genetics and Genomics Into Nursing Practice
Evaluation of the Integration of Genetics and Genomics Into Nursing Practice Open
Purpose Assess US registered nurse genomic competency. Design Administered the Genetics and Genomics Nursing Practice Survey (GGNPS). Methods GGNPS assesses genomic knowledge, skills, attitudes, confidence, and utilization in nursing pract…
View article: The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training
The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training Open
View article: Exomes in Paediatrics: Co‐Design and Implementation of Interventions to Support Paediatricians to Provide Genomic Care
Exomes in Paediatrics: Co‐Design and Implementation of Interventions to Support Paediatricians to Provide Genomic Care Open
Background Despite the potential benefits of genomic testing for children with unique body features and/or developmental differences, these tests are underutilised by paediatricians. Aim To co‐design, implement and evaluate interventions t…
View article: Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary
Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary Open
The increasing integration of genomic medicine into routine medical care brings to light issues of complexity and uncertainty in the interpretation of genetic variation. We describe a fictional case study based on our experiences in the ha…
View article: Integration of Genomics and Personalized Medicine in Clinical Research
Integration of Genomics and Personalized Medicine in Clinical Research Open
View article: Genomic insights into novel ST7947 carbapenem-resistant hypervirulent Klebsiella pneumoniae: a threat from an Indian hospital setting
Genomic insights into novel ST7947 carbapenem-resistant hypervirulent Klebsiella pneumoniae: a threat from an Indian hospital setting Open
BB-7 represents a novel CR-hvKp strain with a unique ST7947 genotype, exhibiting co-resistance and hypervirulence, raising concern for public health. The association of high-risk resistance plasmids with virulence factors underscores the u…
View article: Genomic structural equation modeling uncovers novel risk loci for bone metabolic disorders: cross-tissue genetic mechanisms and bone-brain axis regulation
Genomic structural equation modeling uncovers novel risk loci for bone metabolic disorders: cross-tissue genetic mechanisms and bone-brain axis regulation Open
This study uncovers novel genetic loci and cross-tissue regulatory mechanisms driving BMetDs, emphasizing the pivotal roles of the bone-brain axis and non-coding regulatory elements. Our findings bridge genomic insights with translational …
View article: Genomic Profiling of Pediatric Solid Tumors With a Dual <scp>DNA</scp> / <scp>RNA</scp> Panel: <scp>JCCG‐TOP2</scp> Study
Genomic Profiling of Pediatric Solid Tumors With a Dual <span>DNA</span> / <span>RNA</span> Panel: <span>JCCG‐TOP2</span> Study Open
To develop an optimized genomic medicine platform for pediatric cancers, a nationwide cancer genome profiling project was conducted from January 2022 to February 2023 in collaboration with the Japan Children's Cancer Group. This prospectiv…
View article: Frontiers in Genomics and Molecular Biology: Unlocking the Code of Life for Health and Agriculture
Frontiers in Genomics and Molecular Biology: Unlocking the Code of Life for Health and Agriculture Open
The 21st century entered the era of innovation in the sphere of genomics and molecular biology, which offered possibilities to have never-before-seen insights into the nature of life. Recent advances in next-generation sequencing, gene eng…
View article: Chromosome-scale assembly of Kazakh individuals using modern genomics approaches
Chromosome-scale assembly of Kazakh individuals using modern genomics approaches Open
Background: Population-specific reference genomes are crucial for accurate genomic analysis and precision medicine applications. Currently, there is a lack of high-quality chromosome- level reference genomes specifically representing the K…
View article: Feedback on Marine Medicine Society Conference 2024: From the Organizing Team
Feedback on Marine Medicine Society Conference 2024: From the Organizing Team Open
View article: Genomic studies at Center for Life Sciences- paving the way for personalized medicine in Kazakhstan
Genomic studies at Center for Life Sciences- paving the way for personalized medicine in Kazakhstan Open
Over the last decades there has been vast interest in and focus on the implementation of personalized genomic medicine. In the age of genomic medicine we can now do the genetic testing that will permit precise diagnostics and more accurate…
View article: Dominios y Competencias para la Enfermería de Práctica Avanzada. Un Marco Crítico y Situado para México y América Latina
Dominios y Competencias para la Enfermería de Práctica Avanzada. Un Marco Crítico y Situado para México y América Latina Open
El objetivo de este artículo es proponer un Marco de Competencias para la Enfermería de Práctica Avanzada en el contexto mexicano, con potencial para adecuarse a otros países de América Latina. Esta propuesta integra las directrices de org…
View article: Dominios y Competencias para la Enfermería de Práctica Avanzada. Un Marco Crítico y Situado para México y América Latina
Dominios y Competencias para la Enfermería de Práctica Avanzada. Un Marco Crítico y Situado para México y América Latina Open
El objetivo de este artículo es proponer un Marco de Competencias para la Enfermería de Práctica Avanzada en el contexto mexicano, con potencial para adecuarse a otros países de América Latina. Esta propuesta integra las directrices de org…
View article: Editorial for Special Issue “Linking Genomic Changes with Cancer in the NGS Era, 2nd Edition”
Editorial for Special Issue “Linking Genomic Changes with Cancer in the NGS Era, 2nd Edition” Open
Next-generation sequencing (NGS) has revolutionized our understanding of cancer by enabling the comprehensive genomic profiling of tumors [...]
View article: Digital Revolution in Medical Pathology: Integrating Ai, Genomics, and Molecular Imaging
Digital Revolution in Medical Pathology: Integrating Ai, Genomics, and Molecular Imaging Open
The current clinical pathologic diagnostic process using histological slide evaluation demonstrates inconsistent accuracy in medical diagnosis. Progress in digital pathology and other modern technologies now enables the utilization of AI f…
View article: CanBART: A Generative Foundation Model of Cancer Molecular Alterations for Synthetic Patient Generation and Genomic Profile Completion
CanBART: A Generative Foundation Model of Cancer Molecular Alterations for Synthetic Patient Generation and Genomic Profile Completion Open
Despite the rapid expansion of genomic profiling in oncology, real-world datasets remain limited in size and unevenly distributed, particularly for rare cancers and underrepresented patient populations. The number of available sequenced ca…
View article: ROLE OF AYURGENOMICS IN PERSONALIZED MEDICINE
ROLE OF AYURGENOMICS IN PERSONALIZED MEDICINE Open
Ayurveda is an ancient Indian system of medicine that uses a systems approach to understand and control health and disease. It has some interesting connections with modern personalised genomic medicine approaches to health and disease mana…
View article: The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations Open
View article: Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine
Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine Open
Genomic medicine has made significant progress, driven by genomic technologies and their integration into clinical practice. However, its implementation presents challenges, particularly in genetic counseling (GC) and the interpretation of…
View article: Rare but relevant: genetic liver disease in the general medical setting
Rare but relevant: genetic liver disease in the general medical setting Open
Genetic liver diseases are individually rare but collectively significant causes of chronic liver dysfunction in adults. Conditions such as Wilson disease (WD), hereditary haemochromatosis (HC), and alpha-1 antitrypsin deficiency (A1ATD) o…
View article: ROLE OF AYURGENOMICS IN PERSONALIZED MEDICINE
ROLE OF AYURGENOMICS IN PERSONALIZED MEDICINE Open
Ayurveda is an ancient Indian system of medicine that uses a systems approach to understand and control health and disease. It has some interesting connections with modern personalised genomic medicine approache…
View article: Analisis Yuridis terhadap Sengketa Tanah yang Timbul Akibat Tumpang Tindih Sertifikat dalam Program PTSL
Analisis Yuridis terhadap Sengketa Tanah yang Timbul Akibat Tumpang Tindih Sertifikat dalam Program PTSL Open
Penelitian ini membahas analisis yuridis terhadap sengketa pertanahan yang timbul akibat cacat administrasi dalam pelaksanaan Program Pendaftaran Tanah Sistematis Lengkap (PTSL), sebagaimana tercermin dalam Putusan Pengadilan Tata Usaha Ne…
View article: GDI D6.4 - Report on global resources suitable for inclusion into the GDI
GDI D6.4 - Report on global resources suitable for inclusion into the GDI Open
This deliverable (D6.4) extends the previous work conducted in Deliverable 6.2, which focused on European genomic resources, to a global scope. The aim was to systematically identify and describe global whole genome sequencing (WGS) resour…
View article: Journal of Cardiology & Current Research
Journal of Cardiology & Current Research Open
View article: Ethics of genomic newborn screening—a child centered public health framework
Ethics of genomic newborn screening—a child centered public health framework Open
Background The screening of newborns for severe congenital diseases has been a success story since the 1960s. With the upsurge of genomic sequencing technologies, the question arises: Should genomic Newborn Screening (gNBS) be introduced a…
View article: Towards genomic newborn screening, part I: Mapping the ethical issues
Towards genomic newborn screening, part I: Mapping the ethical issues Open
Definition of problem Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent …
View article: Towards genomic newborn screening, part II: outlining a normative framework
Towards genomic newborn screening, part II: outlining a normative framework Open
Definition of problem Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent …