Annual review of genomics and human genetics最新文献_第2页

The Role of Cilia and the Complex Genetics of Congenital Heart Disease. 纤毛的作用和先天性心脏病的复杂遗传学。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-08-01 Epub Date: 2024-08-06 DOI: 10.1146/annurev-genom-121222-105345

George C Gabriel, Madhavi Ganapathiraju, Cecilia W Lo

{"title":"The Role of Cilia and the Complex Genetics of Congenital Heart Disease.","authors":"George C Gabriel, Madhavi Ganapathiraju, Cecilia W Lo","doi":"10.1146/annurev-genom-121222-105345","DOIUrl":"10.1146/annurev-genom-121222-105345","url":null,"abstract":"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 causing CHD yielded a preponderance of cilia-related genes, pointing to a central role for cilia in CHD pathogenesis. The genes uncovered by the screen included genes that regulate ciliogenesis and cilia-transduced cell signaling as well as many that mediate endocytic trafficking, a cell process critical for both ciliogenesis and cell signaling. The clinical relevance of these findings is supported by whole-exome sequencing analysis of CHD patients that showed enrichment for pathogenic variants in ciliome genes. Surprisingly, among the ciliome CHD genes recovered were many that encoded direct protein-protein interactors. Assembly of the CHD genes into a protein-protein interaction network yielded a tight interactome that suggested this protein-protein interaction may have functional importance and that its disruption could contribute to the pathogenesis of CHD. In light of these and other findings, we propose that an interactome enriched for ciliome genes may provide the genomic context for the complex genetics of CHD and its often-observed incomplete penetrance and variable expressivity.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"309-327"},"PeriodicalIF":7.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140896903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care. 实现人工智能在整个医疗领域精准医疗中的前景。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-08-01 Epub Date: 2024-08-06 DOI: 10.1146/annurev-genom-010323-010230

Jenna Wiens, Kayte Spector-Bagdady, Bhramar Mukherjee

引用次数: 0

The Genetics and Functional Genomics of Osteoarthritis. 骨关节炎的遗传学和功能基因组学。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-08-01 DOI: 10.1146/annurev-genom-010423-095636

Ana Luiza Arruda, Georgia Katsoula, Shibo Chen, Ene Reimann, Peter Kreitmaier, Eleftheria Zeggini

{"title":"The Genetics and Functional Genomics of Osteoarthritis.","authors":"Ana Luiza Arruda, Georgia Katsoula, Shibo Chen, Ene Reimann, Peter Kreitmaier, Eleftheria Zeggini","doi":"10.1146/annurev-genom-010423-095636","DOIUrl":"https://doi.org/10.1146/annurev-genom-010423-095636","url":null,"abstract":"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. No curative treatments are available, and management strategies focus mostly on pain relief. Here, we provide a comprehensive overview of the available human genetic and functional genomics studies for osteoarthritis to date and delineate how these studies have helped shed light on disease etiopathology. We highlight genetic discoveries from genome-wide association studies and provide a detailed overview of molecular-level investigations in osteoarthritis tissues, including methylation-, transcriptomics-, and proteomics-level analyses. We review how functional genomics data from different molecular levels have helped to prioritize effector genes that can be used as drug targets or drug-repurposing opportunities. Finally, we discuss future directions with the potential to drive a step change in osteoarthritis research.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"25 1","pages":"239-257"},"PeriodicalIF":7.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142078933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-08-01 Epub Date: 2024-08-06 DOI: 10.1146/annurev-genom-121222-114518

Gabriel M Morin, Lola Zerbib, Sophie Kaltenbach, Antoine Fraissenon, Estelle Balducci, Vahid Asnafi, Guillaume Canaud

{"title":"PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.","authors":"Gabriel M Morin, Lola Zerbib, Sophie Kaltenbach, Antoine Fraissenon, Estelle Balducci, Vahid Asnafi, Guillaume Canaud","doi":"10.1146/annurev-genom-121222-114518","DOIUrl":"10.1146/annurev-genom-121222-114518","url":null,"abstract":"Recent advances in genetic sequencing are transforming our approach to rare-disease care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also detected in malformation mosaic diseases categorized as PIK3CA-related disorders (PRDs). Over the past decade, new approaches have enabled researchers to elucidate the pathophysiology of PRDs and uncover novel therapeutic options. In just a few years, owing to vigorous global research efforts, PRDs have been transformed from incurable diseases to chronic disorders accessible to targeted therapy. However, new challenges for both medical practitioners and researchers have emerged. Areas of uncertainty remain in our comprehension of PRDs, especially regarding the relationship between genotype and phenotype, the mechanisms underlying mosaicism, and the processes involved in intercellular communication. As the clinical and biological landscape of PRDs is constantly evolving, this review aims to summarize current knowledge regarding PIK3CA and its role in nonmalignant human disease, from molecular mechanisms to evidence-based treatments.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"211-237"},"PeriodicalIF":7.7,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139691072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome-Wide Screening Approaches for Biochemical Reactions Independent of Cell Growth 独立于细胞生长的生化反应的全基因组筛选方法

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-05-02 DOI: 10.1146/annurev-genom-121222-115958

Yuki Noguchi, Risa Matsui, Jaeyeon Suh, Yu Dou, Jun Suzuki

引用次数: 0

The Genetics of Human Sleep and Sleep Disorders 人类睡眠和睡眠障碍的遗传学

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-04-26 DOI: 10.1146/annurev-genom-121222-120306

Xianlin Zou, Louis J. Ptáček, Ying-Hui Fu

引用次数: 0

Genomic Interactions Between Mycobacterium tuberculosis and Humans 结核分枝杆菌与人类之间的基因组相互作用

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-04-19 DOI: 10.1146/annurev-genom-021623-101844

Prasit Palittapongarnpim, Pornpen Tantivitayakul, Pakorn Aiewsakun, Surakameth Mahasirimongkol, Bharkbhoom Jaemsai

{"title":"Genomic Interactions Between Mycobacterium tuberculosis and Humans","authors":"Prasit Palittapongarnpim, Pornpen Tantivitayakul, Pakorn Aiewsakun, Surakameth Mahasirimongkol, Bharkbhoom Jaemsai","doi":"10.1146/annurev-genom-021623-101844","DOIUrl":"https://doi.org/10.1146/annurev-genom-021623-101844","url":null,"abstract":"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 hundreds of sublineages, each with different geographical distributions and levels of virulence. The phylogeographic patterns can be a result of recent and early human migrations as well as coevolution between the bacteria and various human populations, which may explain why many studies on human genetic factors contributing to tuberculosis have not been replicable in different areas. Moreover, several studies have revealed the significance of interactions between human genetic variations and bacterial genotypes in determining the development of tuberculosis, suggesting coadaptation. The increased availability of whole-genome sequence data from both humans and bacteria has enabled a better understanding of these interactions, which can inform the development of vaccines and other control measures.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"122 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrating Large-Scale Protein Structure Prediction into Human Genetics Research 将大规模蛋白质结构预测纳入人类遗传学研究

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-04-15 DOI: 10.1146/annurev-genom-120622-020615

Miguel Correa Marrero, Jürgen Jänes, Delora Baptista, Pedro Beltrao

{"title":"Integrating Large-Scale Protein Structure Prediction into Human Genetics Research","authors":"Miguel Correa Marrero, Jürgen Jänes, Delora Baptista, Pedro Beltrao","doi":"10.1146/annurev-genom-120622-020615","DOIUrl":"https://doi.org/10.1146/annurev-genom-120622-020615","url":null,"abstract":"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. Millions of missense protein variants in the human population lack annotations, and these computational methods are a valuable means to prioritize variants for further analysis. Here, we review the recent progress in deep learning models applied to the prediction of protein structure and protein variants, with particular emphasis on their implications for human genetics and health. Improved prediction of protein structures facilitates annotations of the impact of variants on protein stability, protein–protein interaction interfaces, and small-molecule binding pockets. Moreover, it contributes to the study of host–pathogen interactions and the characterization of protein function. As genome sequencing in large cohorts becomes increasingly prevalent, we believe that better integration of state-of-the-art protein informatics technologies into human genetics research is of paramount importance.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"31 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Benefit-Sharing by Design: A Call to Action for Human Genomics Research 利益共享设计：人类基因组研究行动呼吁书

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-04-12 DOI: 10.1146/annurev-genom-021623-104241

Ann M. Mc Cartney, Amber Hartman Scholz, Mathieu Groussin, Ciara Staunton

{"title":"Benefit-Sharing by Design: A Call to Action for Human Genomics Research","authors":"Ann M. Mc Cartney, Amber Hartman Scholz, Mathieu Groussin, Ciara Staunton","doi":"10.1146/annurev-genom-021623-104241","DOIUrl":"https://doi.org/10.1146/annurev-genom-021623-104241","url":null,"abstract":"The ethical standards for the responsible conduct of human research have come a long way; however, concerns surrounding equity remain in human genetics and genomics research. Addressing these concerns will help society realize the full potential of human genomics research. One outstanding concern is the fair and equitable sharing of benefits from research on human participants. Several international bodies have recognized that benefit-sharing can be an effective tool for ethical research conduct, but international laws, including the Convention on Biological Diversity and its Nagoya Protocol on Access and Benefit-Sharing, explicitly exclude human genetic and genomic resources. These agreements face significant challenges that must be considered and anticipated if similar principles are applied in human genomics research. We propose that benefit-sharing from human genomics research can be a bottom-up effort and embedded into the existing research process. We propose the development of a “benefit-sharing by design” framework to address concerns of fairness and equity in the use of human genomic resources and samples and to learn from the aspirations and decade of implementation of the Nagoya Protocol.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"88 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Causes and Consequences of Varying Transposable Element Activity: An Evolutionary Perspective 可转座元件活性变化的原因和后果：进化的视角

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2024-04-11 DOI: 10.1146/annurev-genom-120822-105708

Andrea J. Betancourt, Kevin H.-C. Wei, Yuheng Huang, Yuh Chwen G. Lee

引用次数: 0