Advanced genetics (Hoboken, N.J.)最新文献

筛选
英文 中文
Global Action on Biodiversity May Hinge on Genetic Data Sharing Agreement 全球生物多样性行动可能取决于遗传数据共享协议
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-12-22 DOI: 10.1002/ggn2.202200031
Jacqueline Batley, Andrew L. Hufton, Guilherme Oliveira, Rajeev K. Varshney
{"title":"Global Action on Biodiversity May Hinge on Genetic Data Sharing Agreement","authors":"Jacqueline Batley,&nbsp;Andrew L. Hufton,&nbsp;Guilherme Oliveira,&nbsp;Rajeev K. Varshney","doi":"10.1002/ggn2.202200031","DOIUrl":"10.1002/ggn2.202200031","url":null,"abstract":"<p>This month, parties to the Convention on Biological Diversity (CBD) are meeting in Montreal with the aim of concluding negotiations on an important new action plan for global biodiversity conservation, known as the post-2020 Global Biodiversity Framework (GBF). In these negotiations, genetic data from plants, animals, fungi and microorganisms, known as digital sequence information (DSI) in policy circles, has emerged as a central source of tension. A number of parties are demanding that benefits arising from the use of these genetic data be better shared with the countries where the genetic material was collected.</p><p>The Nagoya Protocol, a component of the CBD, recognized the right of countries to share in the benefits derived from their nation's genetic resources, and established a framework by which countries can regulate and track the use of physical “genetic resources” (i.e., biological samples, strains, plant lines, etc., containing genetic material). This framework, however, is complex and, in the opinion of many, has proven inefficient at driving meaningful benefit sharing.<sup>[</sup><span><sup>1</sup></span><sup>]</sup></p><p>Researchers and other stakeholders have raised serious concerns about applying such a framework to DSI.<sup>[</sup><span><sup>2, 3</sup></span><sup>]</sup> Some of the proposals on the table could spell an end to the culture of open sequence sharing that has defined non-human genetics research for decades, and which is widely agreed to have massive positive effects on research progress and economic value creation. A poorly developed solution could therefore have a negative impact on biodiversity research that is crucial to the aims of the CBD. Representatives of indigenous peoples and local communities have also been active in the discussions on this topic and argue that the rights and roles of their communities must be respected in any final agreement.<sup>[</sup><span><sup>4</sup></span><sup>]</sup></p><p>That this issue alone could stymie global biodiversity conservation efforts is not in doubt. Talks in August on a major ocean biodiversity treaty failed to make progress because of lack of agreement on DSI,<sup>[</sup><span><sup>5</sup></span><sup>]</sup> and African negotiators have warned that they will not agree to a GBF that lacks a concrete solution to DSI.<sup>[</sup><span><sup>6</sup></span><sup>]</sup> The issue has also proven contentious in a recent meeting of the Governing Body session of the International Treaty on Plant Genetic Resources for Food and Agriculture.<sup>[</sup><span><sup>7</sup></span><sup>]</sup> It is clear that an effective benefit sharing solution must be part of any global action plan to conserve biodiversity.</p><p>But grounds for optimism remain. Scientists and major research organizations are arguing that it is possible to build a solution that will drive benefit-sharing, protect open science and promote biodiversity conservation.<sup>[</sup><span><sup>4, 8, 9</sup></span>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9455821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial Board: (Advanced Genetics 4/03) 编委会:(Advanced Genetics 4/03)
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-12-22 DOI: 10.1002/ggn2.202270042
{"title":"Editorial Board: (Advanced Genetics 4/03)","authors":"","doi":"10.1002/ggn2.202270042","DOIUrl":"10.1002/ggn2.202270042","url":null,"abstract":"Nadav Ahituv, University of California, San Francisco, San Francisco, CA USA Nir Barzilai, Albert Einstein College of Medicine, Bronx, NY USA Jacqueline Batley, University of Western Australia, Perth, Australia Touati Benoukraf,Memorial University of Newfoundland, St. John’s, NL, Canada Ewan Birney, EMBL-EBI, Cambridge, UK Catherine A. Brownstein, Boston Children’s Hospital, Boston, MA USA Stephen J. Chanock, National Cancer Institute, Bethesda, MD USA George Church, Harvard Medical School, Boston, MA USA Francesco Cucca, University of Sassari, Sassari, Sardinia, Italy Marcella Devoto, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy Roland Eils, Berlin Institue of Health, Berlin, Germany Jeanette Erdmann, Institute for Cardiogenetics, University of Lubeck, Lubeck, Germany Andrew Feinberg, Johns Hopkins University, Baltimore, MD USA Claudio Franceschi, University of Bologna, Bologna, Italy Paul W. Franks, Lund University, Malmö, Sweden Rachel Freathy, University of Exeter, Exeter, UK Jingyuan Fu, University Medical Center Groningen, Groningen, The Netherlands Eileen Furlong, European Molecular Biology Laboratory, Heidelberg, Germany Tom Gilbert, University of Copenhagen, The Globe Institute, Copenhagen, Denmark Joseph G. Gleeson, University of California, San Diego, Howard Hughes Medical Institute for Genomic Medicine, La Jolla, CA USA Erica Golemis, Fox Chase Cancer Center, Philadelphia, PA USA Sarah Hearne, International Maize and Wheat Improvement Centre (CIMMYT), Texcoco, Mexico Agnar Helgason, deCODE Genetics, Reykjavik, Iceland Kristina Hettne, Leiden University Libraries, Leiden, The Netherlands Sanwen Huang, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen, China Youssef Idaghdour, New York University, Abu Dhabi, Abu Dhabi, UAE Rosalind John, Cardiff University, Cardiff, UK Moien Kanaan, Bethlehem University, Bethlehem, Palestine Beat Keller, University of Zurich, Zurich, Switzerland Tuuli Lappalainen, New York Genome Center, Columbia University, New York, NY USA Luis F. Larrondo, Pontifica Universidad Catolica de Chile, Santiago, Chile Suet-Yi Leung, The University of Hong Kong, Hong Kong, China Ryan Lister, The University of Western Australia, Perth, Australia Jianjun Liu, Genome Institute Singapore, Singapore Naomichi Matsumoto, Yokohama City University, Yokohama, Japan Rachel S. Meyer, University of California, Los Angeles, Los Angeles, CA USA Nicola Mulder, University of Cape Town, Cape Town, South Africa Seishi Ogawa, Kyoto University, Kyoto, Japan Guilherme Oliveira, Vale Institute of Technology, Belem, Brazil Qiang Pan-Hammarstrom, Karolinska Institute, Stockholm, Sweden Len A. Pennacchio, Joint Genome Institute, Walnut Creek, CA USA Martin Pera, Jackson Lab, Bar Harbor, ME USA Danielle Posthuma, VU University Amsterdam, Amsterdam, The Netherlands Michael Purugganan, New York University, New York, NY USA Maanasa Raghavan, University of Chic","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202270042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86774406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort 间质性膀胱炎/膀胱疼痛综合征队列中的孟德尔疾病
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-27 DOI: 10.1002/ggn2.202200013
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N. Yu, Stuart Bauer, Charles Berde, Pankaj B. Agrawal, Alan H. Beggs, Ali G. Gharavi, Louis Kunkel, Catherine A. Brownstein
{"title":"Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort","authors":"Elicia Estrella,&nbsp;Shira Rockowitz,&nbsp;Marielle Thorne,&nbsp;Pressley Smith,&nbsp;Jeanette Petit,&nbsp;Veronica Zehnder,&nbsp;Richard N. Yu,&nbsp;Stuart Bauer,&nbsp;Charles Berde,&nbsp;Pankaj B. Agrawal,&nbsp;Alan H. Beggs,&nbsp;Ali G. Gharavi,&nbsp;Louis Kunkel,&nbsp;Catherine A. Brownstein","doi":"10.1002/ggn2.202200013","DOIUrl":"10.1002/ggn2.202200013","url":null,"abstract":"<p>Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain. Although this condition affects a large population, little is known about its etiology. Genetic analyses of whole exome sequencing are performed on 109 individuals with IC/BPS. One family has a previously reported <i>SIX5</i> variant (ENST00000317578.6:c.472G&gt;A, p.Ala158Thr), consistent with Branchiootorenal syndrome 2 (BOR2). A likely pathogenic heterozygous variant in <i>ATP2A2</i> (ENST00000539276.2:c.235G&gt;A, p.Glu79Lys) is identified in two unrelated probands, indicating possible Darier-White disease. Two private heterozygous variants are identified in <i>ATP2C1</i> (ENST00000393221.4:c.2358A&gt;T, p.Glu786Asp (VUS/Likely Pathogenic) and ENST00000393221.4:c.989C&gt;G, p.Thr330Ser (likely pathogenic)), indicative of Hailey-Hailey Disease. Sequence kernel association test analysis finds an increased burden of rare <i>ATP2C1</i> variants in the IC/BPS cases versus a control cohort (<i>p</i> = 0.03, OR = 6.76), though does not survive Bonferroni correction. The data suggest that some individuals with IC/BPS may have unrecognized Mendelian syndromes. Comprehensive phenotyping and genotyping aid in understanding the range of diagnoses in the population-based IC/BPS cohort. Conversely, <i>ATP2C1, ATP2A2</i>, and <i>SIX5</i> may be candidate genes for IC/BPS. Further evaluation with larger numbers is needed. Genetically screening individuals with IC/BPS may help diagnose and treat this painful disorder due to its heterogeneous nature.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202200013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9198467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Repetitive DNA is Functional and Encodes Parts of the Non-Coding RNA Repertoire 重复DNA是功能性的,并编码部分非编码RNA
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-26 DOI: 10.1002/ggn2.202200026
James A. Shapiro
{"title":"Repetitive DNA is Functional and Encodes Parts of the Non-Coding RNA Repertoire","authors":"James A. Shapiro","doi":"10.1002/ggn2.202200026","DOIUrl":"10.1002/ggn2.202200026","url":null,"abstract":"<p>This is a commentary on the article by Eviatar Nevo and Kexin Li entitled “Sympatric Speciation in Mole Rats and Wild Barley and Their Genome Repeatome Evolution: A Commentary”, published recently in <i>Advanced Genetics</i>.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9157268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations 雌性原核变异揭示卵母细胞或胚胎染色体拷贝数变异
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-10 DOI: 10.1002/ggn2.202200001
Jingwei Yang, Yikang Wang, Chong Li, Wei Han, Weiwei Liu, Shun Xiong, Qi Zhang, Keya Tong, Guoning Huang, Xiaodong Zhang
{"title":"Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations","authors":"Jingwei Yang,&nbsp;Yikang Wang,&nbsp;Chong Li,&nbsp;Wei Han,&nbsp;Weiwei Liu,&nbsp;Shun Xiong,&nbsp;Qi Zhang,&nbsp;Keya Tong,&nbsp;Guoning Huang,&nbsp;Xiaodong Zhang","doi":"10.1002/ggn2.202200001","DOIUrl":"10.1002/ggn2.202200001","url":null,"abstract":"<p>The characteristics of the human pronuclei (PNs), which exist 16–22 h after fertilization, appear to serve as good indicators to evaluate the quality of human oocyte and embryo, and may reflect the status of female and male chromosome composition. Here, a quantitative PN measurement method that is generated by applying expert experience combined with deep learning from large annotated datasets is reported. After mathematic reconstruction of PNs, significant differences are obtained in chromosome-normal rate and chromosomal small errors such as copy number variants by comparing the size of the reconstructive female PN. After integrating the whole procedure of PN dynamics and adjusting for errors that occur during PN identification, the results are robust. Notably, all positive prediction results are obtained from the female propositus population. Thus, the size of female PNs may mirror the internal quality of the chromosomal integrity of the oocyte. Embryos that develop from zygotes with larger female PNs may have a reduced risk of copy number variations.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202200001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9102527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A CRISPR Path to Finding Vulnerabilities and Solving Drug Resistance: Targeting the Diverse Cancer Landscape and Its Ecosystem 寻找脆弱性和解决耐药性的CRISPR路径:针对不同的癌症景观及其生态系统
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-09 DOI: 10.1002/ggn2.202200014
Benjamin McLean, Aji Istadi, Teleri Clack, Mezzalina Vankan, Daniel Schramek, G. Gregory Neely, Marina Pajic
{"title":"A CRISPR Path to Finding Vulnerabilities and Solving Drug Resistance: Targeting the Diverse Cancer Landscape and Its Ecosystem","authors":"Benjamin McLean,&nbsp;Aji Istadi,&nbsp;Teleri Clack,&nbsp;Mezzalina Vankan,&nbsp;Daniel Schramek,&nbsp;G. Gregory Neely,&nbsp;Marina Pajic","doi":"10.1002/ggn2.202200014","DOIUrl":"10.1002/ggn2.202200014","url":null,"abstract":"<p>Cancer is the second leading cause of death globally, with therapeutic resistance being a major cause of treatment failure in the clinic. The dynamic signaling that occurs between tumor cells and the diverse cells of the surrounding tumor microenvironment actively promotes disease progression and therapeutic resistance. Improving the understanding of how tumors evolve following therapy and the molecular mechanisms underpinning de novo or acquired resistance is thus critical for the identification of new targets and for the subsequent development of more effective combination regimens. Simultaneously targeting multiple hallmark capabilities of cancer to circumvent adaptive or evasive resistance may lead to significantly improved treatment response in the clinic. Here, the latest applications of functional genomics tools, such as clustered regularly interspaced short palindromic repeats (CRISPR) editing, to characterize the dynamic cancer resistance mechanisms, from improving the understanding of resistance to classical chemotherapeutics, to deciphering unique mechanisms that regulate tumor responses to new targeted agents and immunotherapies, are discussed. Potential avenues of future research in combating therapeutic resistance, the contribution of tumor–stroma signaling in this setting, and how advanced functional genomics tools can help streamline the identification of key molecular determinants of drug response are explored.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9455822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Indirect Mechanisms of Transcription Factor-Mediated Gene Regulation during Cell Fate Changes 细胞命运变化中转录因子介导的基因调控的间接机制
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-09 DOI: 10.1002/ggn2.202200015
Michael R. Larcombe, Sheng Hsu, Jose M. Polo, Anja S. Knaupp
{"title":"Indirect Mechanisms of Transcription Factor-Mediated Gene Regulation during Cell Fate Changes","authors":"Michael R. Larcombe,&nbsp;Sheng Hsu,&nbsp;Jose M. Polo,&nbsp;Anja S. Knaupp","doi":"10.1002/ggn2.202200015","DOIUrl":"10.1002/ggn2.202200015","url":null,"abstract":"<p>Transcription factors (TFs) are the master regulators of cellular identity, capable of driving cell fate transitions including differentiations, reprogramming, and transdifferentiations. Pioneer TFs recognize partial motifs exposed on nucleosomal DNA, allowing for TF-mediated activation of repressed chromatin. Moreover, there is evidence suggesting that certain TFs can repress actively expressed genes either directly through interactions with accessible regulatory elements or indirectly through mechanisms that impact the expression, activity, or localization of other regulatory factors. Recent evidence suggests that during reprogramming, the reprogramming TFs initiate opening of chromatin regions rich in somatic TF motifs that are inaccessible in the initial and final cellular states. It is postulated that analogous to a sponge, these transiently accessible regions “soak up” somatic TFs, hence lowering the initial barriers to cell fate changes. This indirect TF-mediated gene regulation event, which is aptly named the “sponge effect,” may play an essential role in the silencing of the somatic transcriptional network during different cellular conversions.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9455820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders 将基因发现转化为对儿童运动障碍的机制理解:来自遗传性肌张力障碍和相关疾病的经验教训
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-09 DOI: 10.1002/ggn2.202200018
Wei-Sheng Lin
{"title":"Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders","authors":"Wei-Sheng Lin","doi":"10.1002/ggn2.202200018","DOIUrl":"10.1002/ggn2.202200018","url":null,"abstract":"<p>The era of next-generation sequencing has increased the pace of gene discovery in the field of pediatric movement disorders. Following the identification of novel disease-causing genes, several studies have aimed to link the molecular and clinical aspects of these disorders. This perspective presents the developing stories of several childhood-onset movement disorders, including paroxysmal kinesigenic dyskinesia, myoclonus-dystonia syndrome, and other monogenic dystonias. These stories illustrate how gene discovery helps focus the research efforts of scientists trying to understand the mechanisms of disease. The genetic diagnosis of these clinical syndromes also helps clarify the associated phenotypic spectra and aids the search for additional disease-causing genes. Collectively, the findings of previous studies have led to increased recognition of the role of the cerebellum in the physiology and pathophysiology of motor control—a common theme in many pediatric movement disorders. To fully exploit the genetic information garnered in the clinical and research arenas, it is crucial that corresponding multi-omics analyses and functional studies also be performed at scale. Hopefully, these integrated efforts will provide us with a more comprehensive understanding of the genetic and neurobiological bases of movement disorders in childhood.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"4 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202200018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10350952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age 116例1 ~ 28月龄不明原因猝死病例的拷贝数变异和结构基因组发现
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-11-07 DOI: 10.1002/ggn2.202200012
Catherine A. Brownstein, Elise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Bree Martin, Sanda Alexandrescu, Elisabeth A. Haas, Sara O. Vargas, Monica H. Wojcik, Sébastien Jacquemont, Annapurna H. Poduri, Richard D. Goldstein, Ingrid A. Holm
{"title":"Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age","authors":"Catherine A. Brownstein,&nbsp;Elise Douard,&nbsp;Robin L. Haynes,&nbsp;Hyun Yong Koh,&nbsp;Alireza Haghighi,&nbsp;Christine Keywan,&nbsp;Bree Martin,&nbsp;Sanda Alexandrescu,&nbsp;Elisabeth A. Haas,&nbsp;Sara O. Vargas,&nbsp;Monica H. Wojcik,&nbsp;Sébastien Jacquemont,&nbsp;Annapurna H. Poduri,&nbsp;Richard D. Goldstein,&nbsp;Ingrid A. Holm","doi":"10.1002/ggn2.202200012","DOIUrl":"10.1002/ggn2.202200012","url":null,"abstract":"<p>In sudden unexplained death in pediatrics (SUDP) the cause of death is unknown despite an autopsy and investigation. The role of copy number variations (CNVs) in SUDP has not been well-studied. Chromosomal microarray (CMA) data are generated for 116 SUDP cases with age at death between 1 and 28 months. CNVs are classified using the American College of Medical Genetics and Genomics guidelines and CNVs in our cohort are compared to an autism spectrum disorder (ASD) cohort, and to a control cohort. Pathogenic CNVs are identified in 5 of 116 cases (4.3%). Variants of uncertain significance (VUS) favoring pathogenic CNVs are identified in 9 cases (7.8%). Several CNVs are associated with neurodevelopmental phenotypes including seizures, ASD, developmental delay, and schizophrenia. The structural variant 47,XXY is identified in two cases (2/69 boys, 2.9%) not previously diagnosed with Klinefelter syndrome. Pathogenicity scores for deletions are significantly elevated in the SUDP cohort versus controls (<i>p</i> = 0.007) and are not significantly different from the ASD cohort. The finding of pathogenic or VUS favoring pathogenic CNVs, or structural variants, in 12.1% of cases, combined with the observation of higher pathogenicity scores for deletions in SUDP versus controls, suggests that CMA should be included in the genetic evaluation of SUDP.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ggn2.202200012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10235350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Reading and writing genomes 读取和写入基因组
Advanced genetics (Hoboken, N.J.) Pub Date : 2022-10-28 DOI: 10.1002/ggn2.202200027
Myles Axton
{"title":"Reading and writing genomes","authors":"Myles Axton","doi":"10.1002/ggn2.202200027","DOIUrl":"10.1002/ggn2.202200027","url":null,"abstract":"<p><i>Advanced Genetics</i> <b>2020</b>, <i>1</i>, e10016</p><p>https://doi.org/10.1002/ggn2.10016</p><p>The authorship of the above article, first published online on July 29, 2019 in Wiley Online Library (https://doi.org/10.1002/ggn2.10016), is corrected. Alison Liu requested this correction as she did not contribute to this manuscript.</p><p>This correction was agreed between the authors, the Editor-in-Chief, and Wiley Periodicals LLC.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"3 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993468/pdf/GGN2-3-2200027.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9099587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信