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Annual review of genomics and human genetics最新文献

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Applications of Single-Cell DNA Sequencing. 单细胞 DNA 测序的应用。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-15 DOI: 10.1146/annurev-genom-111320-090436
Gilad D Evrony, Anjali Gupta Hinch, Chongyuan Luo
{"title":"Applications of Single-Cell DNA Sequencing.","authors":"Gilad D Evrony, Anjali Gupta Hinch, Chongyuan Luo","doi":"10.1146/annurev-genom-111320-090436","DOIUrl":"10.1146/annurev-genom-111320-090436","url":null,"abstract":"<p><p>Over the past decade, genomic analyses of single cells-the fundamental units of life-have become possible. Single-cell DNA sequencing has shed light on biological questions that were previously inaccessible across diverse fields of research, including somatic mutagenesis, organismal development, genome function, and microbiology. Single-cell DNA sequencing also promises significant future biomedical and clinical impact, spanning oncology, fertility, and beyond. While single-cell approaches that profile RNA and protein have greatly expanded our understanding of cellular diversity, many fundamental questions in biology and important biomedical applications require analysis of the DNA of single cells. Here, we review the applications and biological questions for which single-cell DNA sequencing is uniquely suited or required. We include a discussion of the fields that will be impacted by single-cell DNA sequencing as the technology continues to advance.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"171-197"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410678/pdf/nihms-1723444.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25480979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Utility and Diversity: Challenges for Genomic Medicine. 效用和多样性:基因组医学的挑战。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-01 DOI: 10.1146/annurev-genom-120220-082640
Wylie Burke
{"title":"Utility and Diversity: Challenges for Genomic Medicine.","authors":"Wylie Burke","doi":"10.1146/annurev-genom-120220-082640","DOIUrl":"https://doi.org/10.1146/annurev-genom-120220-082640","url":null,"abstract":"<p><p>Genomic information is poised to play an increasing role in clinical care, extending beyond highly penetrant genetic conditions to less penetrant genotypes and common disorders. But with this shift, the question of clinical utility becomes a major challenge. A collaborative effort is necessary to determine the information needed to evaluate different uses of genomic information and then acquire that information. Another challenge must also be addressed if that process is to provide equitable benefits: the lack of diversity of genomic data. Current genomic knowledge comes primarily from populations of European descent, which poses the risk that most of the human population will be shortchanged when health benefits of genomics emerge. These two challenges have defined my career as a geneticist and have taught me that solutions must start with dialogue across disciplinary and social divides.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"1-24"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25552227","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: 9
A Long, Fulfilling Career in Human Genetics. 漫长而充实的人类遗传学职业生涯。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-04 DOI: 10.1146/annurev-genom-111620-095614
Haig H Kazazian
{"title":"A Long, Fulfilling Career in Human Genetics.","authors":"Haig H Kazazian","doi":"10.1146/annurev-genom-111620-095614","DOIUrl":"https://doi.org/10.1146/annurev-genom-111620-095614","url":null,"abstract":"<p><p>I have been fortunate and privileged to have participated in amazing breakthroughs in human genetics since the 1960s. I was lucky to have trained in medical school at Dartmouth and Johns Hopkins, in pediatrics at the University of Minnesota and Johns Hopkins, and in genetics and molecular biology with Dr. Barton Childs at Johns Hopkins and Dr. Harvey Itano at the National Institutes of Health. Later, the collaborative spirit at Johns Hopkins and the University of Pennsylvania were important to my career. Here, I describe the thrill of scientific discovery in two diverse areas of human genetics: DNA haplotypes and their role in solving the molecular basis of beta thalassemia and the role of retrotransposons (jumping genes) in human biology. I hope that this article may inspire others who love human genetics as much as I do.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"27-53"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38946189","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: 2
Scaling Genetic Counseling in the Genomics Era. 基因组学时代的遗传咨询规模。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-15 DOI: 10.1146/annurev-genom-110320-121752
Laura M Amendola, Katie Golden-Grant, Sarah Scollon
{"title":"Scaling Genetic Counseling in the Genomics Era.","authors":"Laura M Amendola,&nbsp;Katie Golden-Grant,&nbsp;Sarah Scollon","doi":"10.1146/annurev-genom-110320-121752","DOIUrl":"https://doi.org/10.1146/annurev-genom-110320-121752","url":null,"abstract":"<p><p>The development of massively parallel sequencing-based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"339-355"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25480607","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: 9
The Emergence and Global Spread of Noninvasive Prenatal Testing. 无创产前检测的出现和全球传播。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-13 DOI: 10.1146/annurev-genom-083118-015053
Vardit Ravitsky, Marie-Christine Roy, Hazar Haidar, Lidewij Henneman, John Marshall, Ainsley J Newson, Olivia M Y Ngan, Tamar Nov-Klaiman
{"title":"The Emergence and Global Spread of Noninvasive Prenatal Testing.","authors":"Vardit Ravitsky,&nbsp;Marie-Christine Roy,&nbsp;Hazar Haidar,&nbsp;Lidewij Henneman,&nbsp;John Marshall,&nbsp;Ainsley J Newson,&nbsp;Olivia M Y Ngan,&nbsp;Tamar Nov-Klaiman","doi":"10.1146/annurev-genom-083118-015053","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015053","url":null,"abstract":"Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"309-338"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25584884","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: 52
Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline. 避免灭绝:生殖系线粒体DNA纯化选择机制的最新研究进展。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-05-26 DOI: 10.1146/annurev-genom-121420-081805
Swathi P Jeedigunta, Anastasia V Minenkova, Jonathan M Palozzi, Thomas R Hurd
{"title":"Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline.","authors":"Swathi P Jeedigunta,&nbsp;Anastasia V Minenkova,&nbsp;Jonathan M Palozzi,&nbsp;Thomas R Hurd","doi":"10.1146/annurev-genom-121420-081805","DOIUrl":"https://doi.org/10.1146/annurev-genom-121420-081805","url":null,"abstract":"<p><p>Mitochondria are unusual organelles in that they contain their own genomes, which are kept apart from the rest of the DNA in the cell. While mitochondrial DNA (mtDNA) is essential for respiration and most multicellular life, maintaining a genome outside the nucleus brings with it a number of challenges. Chief among these is preserving mtDNA genomic integrity from one generation to the next. In this review, we discuss what is known about negative (purifying) selection mechanisms that prevent deleterious mutations from accumulating in mtDNA in the germline. Throughout, we focus on the female germline, as it is the tissue through which mtDNA is inherited in most organisms and, therefore, the tissue that most profoundly shapes the genome. We discuss recent progress in uncovering the mechanisms of germline mtDNA selection, from humans to invertebrates.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"55-80"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39020312","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: 7
The Yin and Yang of Histone Marks in Transcription. 转录中组蛋白标记的阴阳。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-03-29 DOI: 10.1146/annurev-genom-120220-085159
Paul B Talbert, Steven Henikoff
{"title":"The Yin and Yang of Histone Marks in Transcription.","authors":"Paul B Talbert,&nbsp;Steven Henikoff","doi":"10.1146/annurev-genom-120220-085159","DOIUrl":"https://doi.org/10.1146/annurev-genom-120220-085159","url":null,"abstract":"<p><p>Nucleosomes wrap DNA and impede access for the machinery of transcription. The core histones that constitute nucleosomes are subject to a diversity of posttranslational modifications, or marks, that impact the transcription of genes. Their functions have sometimes been difficult to infer because the enzymes that write and read them are complex, multifunctional proteins. Here, we examine the evidence for the functions of marks and argue that the major marks perform a fairly small number of roles in either promoting transcription or preventing it. Acetylations and phosphorylations on the histone core disrupt histone-DNA contacts and/or destabilize nucleosomes to promote transcription. Ubiquitylations stimulate methylations that provide a scaffold for either the formation of silencing complexes or resistance to those complexes, and carry a memory of the transcriptional state. Tail phosphorylations deconstruct silencing complexes in particular contexts. We speculate that these fairly simple roles form the basis of transcriptional regulation by histone marks.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"22 ","pages":"147-170"},"PeriodicalIF":8.7,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25529074","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: 33
Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination. 超越GINA:解决基因歧视的政策方法。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-01-21 DOI: 10.1146/annurev-genom-111119-011436
Yann Joly, Charles Dupras, Miriam Pinkesz, Stacey A Tovino, Mark A Rothstein
{"title":"Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination.","authors":"Yann Joly,&nbsp;Charles Dupras,&nbsp;Miriam Pinkesz,&nbsp;Stacey A Tovino,&nbsp;Mark A Rothstein","doi":"10.1146/annurev-genom-111119-011436","DOIUrl":"https://doi.org/10.1146/annurev-genom-111119-011436","url":null,"abstract":"<p><p>Concerns about genetic discrimination (GD) often surface when discussing research and innovation in genetics. Over recent decades, countries around the world have attempted to address GD using various policy measures. In this article, we survey these approaches and provide a critical commentary on their advantages and disadvantages. Our examination begins with regions featuring extensive policy-making activities (North America and Europe), followed by regions with moderate policy-making activities (Australia, Asia, and South America) and regions with minimal policy-making activities (the Middle East and Africa). Our analysis then turns to emerging issues regarding genetic testing and GD, including the expansion of multiomics sciences and direct-to-consumer genetic tests outside the health context. We additionally survey the shortcomings of current normative approaches addressing GD. Finally, we conclude by highlighting the evolving nature of GD and the need for more innovative policy-making in this area.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"491-507"},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-111119-011436","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37562229","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: 25
How Natural Genetic Variation Shapes Behavior. 自然遗传变异如何塑造行为。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-13 DOI: 10.1146/annurev-genom-111219-080427
Natalie Niepoth, Andres Bendesky
{"title":"How Natural Genetic Variation Shapes Behavior.","authors":"Natalie Niepoth,&nbsp;Andres Bendesky","doi":"10.1146/annurev-genom-111219-080427","DOIUrl":"https://doi.org/10.1146/annurev-genom-111219-080427","url":null,"abstract":"<p><p>Nervous systems allow animals to acutely respond and behaviorally adapt to changes and recurring patterns in their environment at multiple timescales-from milliseconds to years. Behavior is further shaped at intergenerational timescales by genetic variation, drift, and selection. This sophistication and flexibility of behavior makes it challenging to measure behavior consistently in individual subjects and to compare it across individuals. In spite of these challenges, careful behavioral observations in nature and controlled measurements in the laboratory, combined with modern technologies and powerful genetic approaches, have led to important discoveries about the way genetic variation shapes behavior. A critical mass of genes whose variation is known to modulate behavior in nature is finally accumulating, allowing us to recognize emerging patterns. In this review, we first discuss genetic mapping approaches useful for studying behavior. We then survey how variation acts at different levels-in environmental sensation, in internal neuronal circuits, and outside the nervous system altogether-and then discuss the sources and types of molecular variation linked to behavior and the mechanisms that shape such variation. We end by discussing remaining questions in the field.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"437-463"},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-111219-080427","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37830021","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: 30
The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus. 椎板病及其对细胞核结构和功能组织的启示。
IF 8.7 2区 生物学
Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-19 DOI: 10.1146/annurev-genom-121219-083616
Xianrong Wong, Colin L Stewart
{"title":"The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus.","authors":"Xianrong Wong,&nbsp;Colin L Stewart","doi":"10.1146/annurev-genom-121219-083616","DOIUrl":"https://doi.org/10.1146/annurev-genom-121219-083616","url":null,"abstract":"<p><p>In recent years, our perspective on the cell nucleus has evolved from the view that it is a passive but permeable storage organelle housing the cell's genetic material to an understanding that it is in fact a highly organized, integrative, and dynamic regulatory hub. In particular, the subcompartment at the nuclear periphery, comprising the nuclear envelope and the underlying lamina, is now known to be a critical nexus in the regulation of chromatin organization, transcriptional output, biochemical and mechanosignaling pathways, and, more recently, cytoskeletal organization. We review the various functional roles of the nuclear periphery and their deregulation in diseases of the nuclear envelope, specifically the laminopathies, which, despite their rarity, provide insights into contemporary health-care issues.</p>","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"263-288"},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-121219-083616","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37953776","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: 41
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