Giulia Petrone,Isik Turker,Pradeep Natarajan et al.
Giulia Petrone et al.
Clonal hematopoiesis (CH) is an age-related process whereby hematopoietic stem and progenitor cells (HSPCs) acquire mutations that lead to a proliferative advantage and clonal expansion. The most commonly mutated genes are epigenetic regula...
Ana Luiza Arruda,Georgia Katsoula,Shibo Chen et al.
Ana Luiza Arruda et al.
Osteoarthritis is the most prevalent whole-joint degenerative disorder, and is characterized by the degradation of articular cartilage and the underlying bone structures. Almost 600 million people are affected by osteoarthritis worldwide. N...
Alison Bateman-House
Alison Bateman-House
Manipulation of a patient's genome for therapeutic ends is being attempted through numerous methods, some of which have resulted in disease-modifying interventions. The much anticipated promise of somatic gene therapy is starting to pay off...
George C Gabriel,Madhavi Ganapathiraju,Cecilia W Lo
George C Gabriel
Congenital heart disease (CHD) can affect up to 1% of live births, and despite abundant evidence of a genetic etiology, the genetic landscape of CHD is still not well understood. A large-scale mouse chemical mutagenesis screen for mutations...
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care [0.03%]
面向精准医疗的AI技术在全程临床护理中的应用展望
Jenna Wiens,Kayte Spector-Bagdady,Bhramar Mukherjee
Jenna Wiens
Significant progress has been made in augmenting clinical decision-making using artificial intelligence (AI) in the context of secondary and tertiary care at large academic medical centers. For such innovations to have an impact across the ...
Genome-Wide Screening Approaches for Biochemical Reactions Independent of Cell Growth [0.03%]
独立于细胞生长的生化反应全基因组筛选方法
Yuki Noguchi,Risa Matsui,Jaeyeon Suh et al.
Yuki Noguchi et al.
Genome-wide screening is a potent approach for comprehensively understanding the molecular mechanisms of biological phenomena. However, despite its widespread use in the past decades across various biological targets, its application to bio...
Xianlin Zou,Louis J Ptáček,Ying-Hui Fu
Xianlin Zou
Healthy sleep is vital for humans to achieve optimal health and longevity. Poor sleep and sleep disorders are strongly associated with increased morbidity and mortality. However, the importance of good sleep continues to be underrecognized....
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References [0.03%]
人类基因组计划之外：完整人类基因组序列和泛基因组参考的时代
Dylan J Taylor,Jordan M Eizenga,Qiuhui Li et al.
Dylan J Taylor et al.
The Human Genome Project was an enormous accomplishment, providing a foundation for countless explorations into the genetics and genomics of the human species. Yet for many years, the human genome reference sequence remained incomplete and ...
Prasit Palittapongarnpim,Pornpen Tantivitayakul,Pakorn Aiewsakun et al.
Prasit Palittapongarnpim et al.
Mycobacterium tuberculosis is considered by many to be the deadliest microbe, with the estimated annual cases numbering more than 10 million. The bacteria, including Mycobacterium africanum, are classified into nine major lineages and hundr...
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research [0.03%]
大型蛋白质结构预测在人类遗传学研究中的应用集成
Miguel Correa Marrero,Jürgen Jänes,Delora Baptista et al.
Miguel Correa Marrero et al.
The last five years have seen impressive progress in deep learning models applied to protein research. Most notably, sequence-based structure predictions have seen transformative gains in the form of AlphaFold2 and related approaches. Milli...