Annual review of genomics and human genetics最新文献_第8页

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, Marie-Christine Roy, Hazar Haidar, Lidewij Henneman, John Marshall, Ainsley J Newson, Olivia M Y Ngan, 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

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

引用次数: 33

The Long Journey from Diagnosis to Therapy. 从诊断到治疗的漫长旅程。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 DOI: 10.1146/annurev-genom-112019-083518

Kay E Davies

引用次数: 2

International Divergence in Gene Patenting. 基因专利的国际差异。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-02-20 DOI: 10.1146/annurev-genom-083118-015112

Dianne Nicol, Rochelle C Dreyfuss, E Richard Gold, Wei Li, John Liddicoat, Geertrui Van Overwalle

{"title":"International Divergence in Gene Patenting.","authors":"Dianne Nicol, Rochelle C Dreyfuss, E Richard Gold, Wei Li, John Liddicoat, Geertrui Van Overwalle","doi":"10.1146/annurev-genom-083118-015112","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015112","url":null,"abstract":"This review explores the recent divergence in international patent law relating to genes and associated subject matter. This divergence stems primarily from decisions of the highest courts in the United States and Australia on the eligibility of patent claims relating to the BRCA gene sequences. Patent offices, courts, and policy makers have struggled for many years to clearly articulate the bounds of patent claims on isolated and synthetic DNA and related products and processes, including methods for their use in genetic diagnostics. This review provides context to the current divergence by mapping key events in the gene patent journey from the early 1980s onward in five key jurisdictions: the United States, the member states of the European Patent Convention, Australia, Canada, and China. Early approaches to gene patenting had some commonalities across jurisdictions, which makes exploration of the recent divergence all the more interesting.There is insufficient empirical evidence to date to confidently predict the consequences of this recent divergence. However, it could potentially have a significant effect on local industry and on consumer access.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"519-541"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015112","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36974426","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: 8

Epigenetic Regulation and Risk Factors During the Development of Human Gametes and Early Embryos. 人类配子和早期胚胎发育过程中的表观遗传调控及危险因素。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-03-27 DOI: 10.1146/annurev-genom-083118-015143

Yang Wang, Qiang Liu, Fuchou Tang, Liying Yan, Jie Qiao

引用次数: 19

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE. 基因组研究的未来必须具有全球代表性:来自PAGE的观点。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-12 DOI: 10.1146/annurev-genom-091416-035517

Stephanie A Bien, Genevieve L Wojcik, Chani J Hodonsky, Christopher R Gignoux, Iona Cheng, Tara C Matise, Ulrike Peters, Eimear E Kenny, Kari E North

{"title":"The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.","authors":"Stephanie A Bien, Genevieve L Wojcik, Chani J Hodonsky, Christopher R Gignoux, Iona Cheng, Tara C Matise, Ulrike Peters, Eimear E Kenny, Kari E North","doi":"10.1146/annurev-genom-091416-035517","DOIUrl":"https://doi.org/10.1146/annurev-genom-091416-035517","url":null,"abstract":"The past decade has seen a technological revolution in human genetics that has empowered population-level investigations into genetic associations with phenotypes. Although these discoveries rely on genetic variation across individuals, association studies have overwhelmingly been performed in populations of European descent. In this review, we describe limitations faced by single-population studies and provide an overview of strategies to improve global representation in existing data sets and future human genomics research via diversity-focused, multiethnic studies. We highlight the successes of individual studies and meta-analysis consortia that have provided unique knowledge. Additionally, we outline the approach taken by the Population Architecture Using Genomics and Epidemiology (PAGE) study to develop best practices for performing genetic epidemiology in multiethnic contexts. Finally, we discuss how limiting investigations to single populations impairs findings in the clinical domain for both rare-variant identification and genetic risk prediction.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"181-200"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-091416-035517","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37148764","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: 30

Gene and Induced Pluripotent Stem Cell Therapy for Retinal Diseases. 基因和诱导多能干细胞治疗视网膜疾病。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-04-24 DOI: 10.1146/annurev-genom-083118-015043

Akiko Maeda, Michiko Mandai, Masayo Takahashi

引用次数: 35

tRNA Metabolism and Neurodevelopmental Disorders. tRNA代谢与神经发育障碍。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-13 DOI: 10.1146/annurev-genom-083118-015334

Ashleigh E Schaffer, Otis Pinkard, Jeffery M Coller

{"title":"tRNA Metabolism and Neurodevelopmental Disorders.","authors":"Ashleigh E Schaffer, Otis Pinkard, Jeffery M Coller","doi":"10.1146/annurev-genom-083118-015334","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015334","url":null,"abstract":"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.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"359-387"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37235563","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: 54

Genetic Predisposition to Childhood Cancer in the Genomic Era. 基因组时代儿童癌症的遗传易感性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2019-08-31 Epub Date: 2019-05-13 DOI: 10.1146/annurev-genom-083118-015415

Sharon E Plon, Philip J Lupo

{"title":"Genetic Predisposition to Childhood Cancer in the Genomic Era.","authors":"Sharon E Plon, Philip J Lupo","doi":"10.1146/annurev-genom-083118-015415","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015415","url":null,"abstract":"Developments over the past five years have significantly advanced our ability to use genome-scale analyses-including high-density genotyping, transcriptome sequencing, exome sequencing, and genome sequencing-to identify the genetic basis of childhood cancer. This article reviews several key results from an expanding number of genomic studies of pediatric cancer: (a) Histopathologic subtypes of cancers can be associated with a high incidence of germline predisposition, (b) neurodevelopmental disorders or highly penetrant cancer predisposition syndromes can result from specific patterns of variation in genes encoding the SMARC family of chromatin remodelers, (c) genome-wide association studies with relatively small pediatric cancer cohorts have successfully identified single-nucleotide polymorphisms with large effect sizes and provided insight into population differences in cancer risk, and (d) multiple exome or genome analyses of unselected childhood cancer cohorts have yielded a 7-10% incidence of pathogenic variants in cancer predisposition genes. This work supports the increasing use of genomic sequencing in the care of pediatric cancer patients and at-risk family members.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"20 ","pages":"241-263"},"PeriodicalIF":8.7,"publicationDate":"2019-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015415","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37235560","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