自 2000 年出版的《基因组学和人类遗传学年度回顾》涵盖了基因组学领域的重大发展，因为它们适用于人类遗传学和人类基因组。我们对基因组技术、基因组结构和功能、基因改造、人类变异和群体遗传学、人类进化以及更重要的是人类遗传疾病的各个方面以及包括个体化医学等领域都特别感兴趣。

Since its inception in 2000, the Annual Review of Genomics and Human Genetics has covered significant advancements in the field of genomics, particularly as they relate to human genetics and the human genome. We are particularly interested in various aspects of genomic technologies, genomic structure and function, genetic modification, human variation and population genetics, human evolution, and, importantly, human genetic diseases, including fields such as personalized medicine.

《Annual Review of Genomics and Human Genetics》自2000年出版以来，涵盖了基因组学领域的重要进展，特别是与人类遗传学和人类基因组相关的研究。我们关注基因组技术、基因组结构与功能、基因改造、人类变异与群体遗传学、人类进化，以及人类遗传疾病等多个方面，尤其是个体化医学等领域。

Annual Review of Genomics and Human Genetics

Spatiotemporal control of gene expression during development requires orchestrated activities of numerous enhancers, which are cis-regulatory DNA sequences that, when bound by transcription factors, support selective activation or repression of associated genes. Proper activation of enhancers is critical during embryonic development, adult tissue homeostasis, and regeneration, and inappropriate enhancer activity is often associated with pathological conditions such as cancer. Multiple consortia [e.g., the Encyclopedia of DNA Elements (ENCODE) Consortium and National Institutes of Health Roadmap Epigenomics Mapping Consortium] and independent investigators have mapped putative regulatory regions in a large number of cell types and tissues, but the sequence determinants of cell-specific enhancers are not yet fully understood. Machine learning approaches trained on large sets of these regulatory regions can identify core transcription factor binding sites and generate quantitative predictions of enhancer activity and the impact of sequence variants on activity. Here, we review these computational methods in the context of enhancer prediction and gene regulatory network models specifying cell fate.

Michael A. Beer

Dustin Shigaki

Danwei Huangfu

Enhancer Predictions and Genome-Wide Regulatory Circuits

增强子预测与全基因组调控回路

tRNAs are short noncoding RNAs required for protein translation. The human genome includes more than 600 putative tRNA genes, many of which are considered redundant. tRNA transcripts are subject to tightly controlled, multistep maturation processes that lead to the removal of flanking sequences and the addition of nontemplated nucleotides. Furthermore, tRNAs are highly structured and posttranscriptionally modified. Together, these unique features have impeded the adoption of modern genomics and transcriptomics technologies for tRNA studies. Nevertheless, it has become apparent from human neurogenetic research that many tRNA biogenesis proteins cause brain abnormalities and other neurological disorders when mutated. The cerebral cortex, cerebellum, and peripheral nervous system show defects, impairment, and degeneration upon tRNA misregulation, suggesting that they are particularly sensitive to changes in tRNA expression or function. An integrated approach to identify tRNA species and contextually characterize tRNA function will be imperative to drive future tool development and novel therapeutic design for tRNA-associated disorders.

Ashleigh E. Schaffer

Otis Pinkard

Jeffery M. Coller

Annu. Rev. Genom. Hum. Genet.

tRNA Metabolism and Neurodevelopmental Disorders

tRNA代谢与神经发育障碍

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic, and immune etiologies; however, in most people with epilepsy, no obvious cause is identifiable. Based initially on family studies and later on advances in gene sequencing technologies and computational approaches, as well as the establishment of large collaborative initiatives, we now know that genetics plays a much greater role in epilepsy than was previously appreciated. Here, we review the progress in the field of epilepsy genetics and highlight molecular discoveries in the most important epilepsy groups, including those that have been long considered to have a nongenetic cause. We discuss where the field of epilepsy genetics is moving as it enters a new era in which the genetic architecture of common epilepsies is starting to be unraveled.

Piero Perucca

Melanie Bahlo

Samuel F. Berkovic

The Genetics of Epilepsy

癫痫的遗传学

RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic phenotypes for modeling the impacts of disease variants. Advances in technologies, experimental protocols, and analysis strategies are rapidly expanding the application of RNA-seq to identify disease biomarkers, tissue- and cell-type-specific impacts, and the spatial localization of disease-associated mechanisms. Ongoing international efforts to construct biobank-scale transcriptomic repositories with matched genomic data across diverse population groups are further increasing the utility of RNA-seq approaches by providing large-scale normative reference resources. The availability of these resources, combined with improved computational analysis pipelines, has enabled the detection of aberrant transcriptomic phenotypes underlying rare diseases. Further expansion of these resources, across both somatic and developmental tissues, is expected to soon provide unprecedented insights to resolve disease origin, mechanism of action, and causal gene contributions, suggesting the continued high utility of RNA-seq in disease diagnosis. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 25 is August 2024. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Craig Smail

Stephen B. Montgomery

RNA Sequencing in Disease Diagnosis

疾病诊断中的RNA测序

The genome sequences of multiple species has enabled functional inferences from comparative genomics. A primary objective is to infer biological functions from the conservation of homologous DNA sequences between species. A second, more difficult, objective is to understand what functional DNA sequences have changed over time and are responsible for species' phenotypic differences. The neutral theory of molecular evolution provides a theoretical framework in which both objectives can be explicitly tested. Development of statistical tests within this framework has provided insight into the evolutionary forces that constrain and in some cases change DNA sequences and the resulting patterns that emerge. In this article, we review recent work on how functional constraint and changes in protein function are inferred from protein polymorphism and divergence data. We relate these studies to our understanding of the neutral theory and adaptive evolution.

Justin C. Fay

Chung-I Wu

Sequence Divergence, Functional Constraint, and Selection in Protein Evolution

蛋白质进化中的序列分歧、功能约束与选择

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; however, there remain many scientific unknowns, including concerns about safety and durability. A significant ethical concern is that of access to these novel interventions, an issue that is normally framed in terms of the high costs of approved products. I describe how access issues permeate gene therapy long before there is any commercial product and how even upstream decisions—such as choices of indication to pursue, viral vector, and where to site a trial—have significant implications for access to resultant products in both the developmental and commercial stages.

Alison Bateman-House

Somatic Gene Therapy: Ethics and Access

体细胞基因治疗：伦理与可及性

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 regulators, DNA damage response genes, and splicing factors, which are essential to maintain functional HSPCs and are frequently involved in the development of hematologic malignancies. Established risk factors for CH, including age, prior cytotoxic therapy, and smoking, increase the risk of acquiring CH and/or may increase CH fitness. CH has emerged as a novel risk factor in many age-related diseases, such as hematologic malignancies, cardiovascular disease, diabetes, and autoimmune disorders, among others. Future characterization of the mechanisms driving CH evolution will be critical to develop preventative and therapeutic approaches.

Giulia Petrone

Isik Turker

Pradeep Natarajan

Kelly L. Bolton

Clinical and Therapeutic Implications of Clonal Hematopoiesis

克隆性造血的临床和治疗意义

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.

Ana Luiza Arruda

Georgia Katsoula

Shibo Chen

Ene Reimann

Peter Kreitmaier

Eleftheria Zeggini

The Genetics and Functional Genomics of Osteoarthritis

骨关节炎的遗传学与功能基因组学

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.

George C. Gabriel

Madhavi Ganapathiraju

Cecilia W. Lo

The Role of Cilia and the Complex Genetics of Congenital Heart Disease

纤毛与先天性心脏病复杂遗传学的作用

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 spectrum of care, additional challenges must be addressed, including inconsistent use of preventative care and gaps in chronic care management. The integration of additional data, including genomics and data from wearables, could prove critical in addressing these gaps, but technical, legal, and ethical challenges arise. On the technical side, approaches for integrating complex and messy data are needed. Data and design imperfections like selection bias, missing data, and confounding must be addressed. In terms of legal and ethical challenges, while AI has the potential to aid in leveraging patient data to make clinical care decisions, we also risk exacerbating existing disparities. Organizations implementing AI solutions must carefully consider how they can improve care for all and reduce inequities.

Jenna Wiens

Kayte Spector-Bagdady

Bhramar Mukherjee

Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care

实现人工智能在全护理领域精准医疗的承诺

短名	Annu. Rev. Genom. Hum. Genet.
Journal Impact	7.79
国际分区	GENETICS & HEREDITY(Q1)
期刊索引	SCI Q1中科院 2 区

ISSN	1527-8204, 1545-293X
h-index	129
国内分区	生物学(2区)生物学遗传学(2区)

涉及主题	生物遗传学化学生物化学基因医学基因组计算生物学内科学计算机科学进化生物学病理基因组学心理学社会学
出版信息	出版商: Annual Reviews Inc.，出版周期: Annual，期刊类型: journal，开源期刊: 否
基本数据	创刊年份: 2000，原创研究文献占比: 0.00%，自引率:1.30%， Gold OA占比: 88.71%
平均审稿周期	网友分享经验：约稿?周期不定
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Annual Review of Genomics and Human Genetics

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