Annual Review of Genomics and Human Genetics基因组学与人类遗传学年度综述
Annual Review of Genomics and Human Genetics(英文缩写 ANNU REV GENOM HUM G),ISSN 1527-8204,eISSN 1545-293X,中文译名:基因组学与人类遗传学年度综述 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-09-27 至 2026-09-27，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 9.340 | Q1 |
| 2022 | 8.700 | Q1 |
| 2023 | 7.700 | Q1 |
| 2024 | 7.900 | Q1 |
| 2025 | 8.300 | Q1 |
Annual Review of Genomics and Human Genetics 最新收录文献
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1. Beyond TADs and Compartments: Mesoscale Chromatin Folding and Its Dynamics in Transcriptional Regulation.
PMID:日期:2026-08-01Below the scale of long-range compartments and topologically associating domains (TADs) lie a diverse set of local chromatin organization features. Recent maps and single-molecule assays reveal modular sub-TAD units, nucleosome clutches, micro- and nanodomains, packing domains, microcompartments, and stripes arising from an interplay of loop extrusion, epigenetic affinity and condensates, and polymerase motion. We highlight how cohesin regulation and its crosstalk with transcription shape local topology, how microcompartments and affinity-driven hubs guide enhancer-promoter communication, and how nucleosome positioning and spacing set the energetic landscape on which these forces act. We also outline how sub-TAD architecture is related to dynamics and single-molecule heterogeneity, describe additional looping mechanisms and several case studies of mesoscale structure regulation, and discuss perspectives on how technological advances can build a more mechanistic understanding of mesoscale chromatin organization. Overall, we argue that the submegabase structure of chromatin, though complex, is an essential length scale for understanding transcriptional regulation.
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2. Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.
PMID:日期:2026-08-01Noncoding variants occur within noncoding genes as well as within the regulatory nontranslated regions of protein-coding genes. It is important to be aware that these variants have been increasingly implicated in developmental disease through a variety of mechanisms. However, they remain difficult to interpret clinically due to their unclear effect on transcript or protein abundance compared with coding variants. Here, we review methods to identify pathogenic noncoding variants in rare disease, which can present challenges due to the inaccessibility of disease-relevant tissue for many conditions. We explore experimental approaches such as high-throughput functional assays, omic data integration, and long-read sequencing. We also review computational methods for annotating and filtering variants, as well as machine learning methods for predicting variant effect and pathogenicity. We discuss the recent discovery of several developmental syndromes caused by noncoding variants and propose an integrated approach to identifying pathogenic noncoding variants within this patient cohort.
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3. How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models.
PMID:日期:2026-08-01Though individually rare, rare diseases collectively affect nearly 1 out of 30 individuals, highlighting the continued need for and importance of research on these disorders. We argue that the recent work in identifying and diagnosing previously undiagnosed diseases is only the beginning. To meet this need, animal models have played an important role in studying rare and undiagnosed diseases by providing functional and biological information to validate candidate disease genes. Specifically, nonmammalian models like nematode worms (), fruit flies (), and zebrafish () provide significant advantages to the scientific community and have, unsurprisingly, been essential in many advances in the rare disease field and beyond. Given this success, new priorities are emerging on how to use these animal models to drive therapeutic-focused research. In this review, we discuss how these common nonmammalian models have pointed to new therapeutic directions and are used to both test and create therapies. Through the characterization of genetic mechanisms and emerging protocols like drug repurposing, animal models have never been as important to the rare disease field as they are now. Ongoing mechanistic discoveries and therapeutic advances not only have the potential to improve our management of rare disease but may also have implications for more common disorders across multiple areas of medicine.
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4. Synthetic Regulatory Genomics.
PMID:日期:2026-08-01The genomics era has yielded high-quality genome assemblies, comprehensive atlases of biochemical signatures of gene regulation, and genetic associations for thousands of common human diseases and traits. These dramatic advances in observational approaches have not been matched by perturbational genetic tools to facilitate direct and systematic hypothesis testing. Enabled by advances in DNA synthesis and assembly, genome engineering tools, and genomic readouts, synthetic regulatory genomics now promises access to a new scale of genomic manipulation to study the function of cohesive genomic units. Synthetic regulatory genomics is distinguished by the breadth of the genetic manipulations and their divergence from the reference sequence. These new tools enable an expanded focus to encompass sufficiency in addition to necessity and to enable a new era of perturbation analysis.
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5. Community Engagement in Genomic Research: Where We Have Been and Where We Should Go.
PMID:日期:2026-08-01Community engagement in science has a long history but is particularly important for genomics because of the legacy of eugenics and the importance of diversity and representation in population genetics. In this article, I describe the role of community engagement in the context of the evolving relationship between science and society. Specifically, modern genomics is occurring during a shift toward context-driven, interdisciplinary, and socially robust research that is driven less by traditional values of science and more by relational processes. I review different approaches to engagement, including community-based participatory research, research with patient advocacy organizations, and citizen science/DIY efforts. I then highlight the ethical justification for community engagement in genomic research, including the need to address the history of injustices in genetic science and lack of diversity of participants. Finally, I review some of the challenges of community engagement and where we can look for guidance on practices of knowledge co-production.
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6. Revisiting Founder Populations in an Age of Global Biobanks.
PMID:日期:2026-08-01Founder populations have played a pivotal role in human genetics, enabling the discovery of causal variants for disease and providing insight into population history and dynamics. The rapid expansion of global genomic databases has revealed that founder populations are far more common than once recognized, as population-scale sequencing now allows for systematic detection of founder events and founder-like population structure across the world. Contemporary genomic methods facilitate the characterization of founder populations using genetic metrics such as identity by descent, runs of homozygosity, and haplotype-based clustering. As the field shifts from small, ascertained founder cohorts to biobank-scale datasets containing millions of participants, new opportunities and challenges have emerged, including analytical, interpretive, and ethical complexities in the study of founder populations. Here, we review the historical and ongoing contributions of founder populations to genetics, outline current approaches for biobanks, and highlight growing opportunities to integrate founder population research into genomic medicine.
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7. Unraveling Non-B DNA Structures in the Era of Telomere-to-Telomere Genomes.
7. 在端粒到端粒基因组时代解开非B型DNA结构之谜PMID:日期:2026-08-01Telomere-to-telomere (T2T) genome assemblies now provide a complete representation of genomic sequences, enabling unprecedented exploration of non-B DNA structures-secondary conformations distinct from canonical B-DNA. These fully resolved genomes reveal the true abundance and chromosomal distribution of motifs capable of forming G-quadruplexes, Z-DNA, triplexes, and other noncanonical structures, including within previously inaccessible satellite and repetitive regions. T2T assemblies also illuminate how non-B DNA influences key biological processes such as replication, recombination, chromatin organization, and transcription. Moreover, emerging evidence links non-B DNA structures to genomic instability, mutation hotspots, and disease etiology. Comparative T2T analyses across species are beginning to uncover evolutionary patterns and selection pressures acting on these motifs. Integrating advanced prediction tools, AI-based analyses, and experimental validation promises to clarify the multifaceted roles of non-B DNA in genome function, regulation, and evolution.
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8. Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory Networks.
PMID:日期:2026-08-01Gene regulatory networks (GRNs) define the regulatory relationships among molecules such as transcription factors, chromatin remodelers, and target genes. GRNs play a critical role in diverse biological processes, including development, disease manifestation, and evolution. However, fully characterizing these networks across multiple cell types and states remains a significant challenge. Recent advances in single-cell omics have dramatically enhanced our ability to measure biological systems at unprecedented resolution. These technologies have opened new avenues for computational methods to infer GRNs, offering deeper insights into cell type-specific mechanisms, causality, and dynamic regulatory processes. This review summarizes the current state of GRN inference from single-cell omic datasets, with a particular focus on dynamics and perturbations, and outlines key open challenges that must be addressed to advance the field.
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9. Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics.
PMID:日期:2026-08-01TDP-43 is an RNA-binding protein that regulates multiple aspects of RNA processing, and its mislocalization from the nucleus to the cytoplasm is a defining feature of amyotrophic lateral sclerosis (ALS). While both loss- and gain-of-function mechanisms contribute to disease, the discovery of cryptic splicing has shed light on the downstream consequences of TDP-43 nuclear clearance for neuronal health. Here, we highlight how loss of nuclear TDP-43 can drive a cascade of events that lead to the impairment of cellular proteostasis and result in a positive feedback loop that perpetuates neuronal dysfunction. This sustains the appearance of cryptic splicing events in genes that are involved in key pathways for the maintenance of axonal homeostasis and synaptic transmission. In contrast to their detrimental effects on neuronal health, cryptic splicing mechanisms may be harnessed to develop novel therapeutic strategies, unprecedentedly expanding the availability of therapeutic avenues for TDP-43 proteinopathies.
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10. Transcriptional Regulatory Modulation as a Potential Therapeutic Modality.
PMID:日期:2026-08-01Numerous human diseases are caused by changes in gene expression levels. In addition, changing the expression levels of specific genes can lead to therapeutic benefits for several diseases. Nuclease-deficient gene-editing proteins fused to transcriptional modulators that target gene regulatory elements have emerged as powerful, programmable, and customizable systems to modify gene expression for therapeutic benefits. Several of these systems have already been used in the clinic, and many more are under development. Here, we review these emerging technologies and assess their therapeutic potential, their delivery, and related challenges in the clinic.