Annual review of genomics and human genetics最新文献_第3页

Open Data in the Era of the GDPR: Lessons from the Human Cell Atlas. GDPR时代的开放数据:来自人类细胞图谱的教训。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-101322-113255

Bartha Maria Knoppers, Alexander Bernier, Sarion Bowers, Emily Kirby

引用次数: 2

DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data. DECIPHER：通过动态整合基因组和临床数据改进基因诊断。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 Epub Date: 2023-06-07 DOI: 10.1146/annurev-genom-102822-100509

Julia Foreman, Daniel Perrett, Erica Mazaika, Sarah E Hunt, James S Ware, Helen V Firth

{"title":"DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.","authors":"Julia Foreman, Daniel Perrett, Erica Mazaika, Sarah E Hunt, James S Ware, Helen V Firth","doi":"10.1146/annurev-genom-102822-100509","DOIUrl":"10.1146/annurev-genom-102822-100509","url":null,"abstract":"DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the boundary between genomic research and the clinical community. DECIPHER aims to ensure that the most up-to-date data are made rapidly available within its interpretation interfaces to improve clinical care. Newly integrated cardiac case-control data that provide evidence of gene-disease associations and inform variant interpretation exemplify this mission. New research resources are presented in a format optimized for use by a broad range of professionals supporting the delivery of genomic medicine. The interfaces within DECIPHER integrate and contextualize variant and phenotypic data, helping to determine a robust clinico-molecular diagnosis for rare-disease patients, which combines both variant classification and clinical fit. DECIPHER supports discovery research, connecting individuals within the rare-disease community to pursue hypothesis-driven research.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10298898","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

Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility. 减数分裂染色体结构、突触复合体与不孕症。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-110122-090239

Ian R Adams, Owen R Davies

引用次数: 3

The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules. 人类顶中心染色体的p臂有一套不同的规则。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-101122-081642

Brian McStay

引用次数: 5

Methods and Insights from Single-Cell Expression Quantitative Trait Loci. 单细胞表达定量性状基因组的方法和见解。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 Epub Date: 2023-05-17 DOI: 10.1146/annurev-genom-101422-100437

Joyce B Kang, Alessandro Raveane, Aparna Nathan, Nicole Soranzo, Soumya Raychaudhuri

{"title":"Methods and Insights from Single-Cell Expression Quantitative Trait Loci.","authors":"Joyce B Kang, Alessandro Raveane, Aparna Nathan, Nicole Soranzo, Soumya Raychaudhuri","doi":"10.1146/annurev-genom-101422-100437","DOIUrl":"10.1146/annurev-genom-101422-100437","url":null,"abstract":"Recent advancements in single-cell technologies have enabled expression quantitative trait locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk RNA sequencing, which averages gene expression across cell types and cell states, single-cell assays capture the transcriptional states of individual cells, including fine-grained, transient, and difficult-to-isolate populations at unprecedented scale and resolution. Single-cell eQTL (sc-eQTL) mapping can identify context-dependent eQTLs that vary with cell states, including some that colocalize with disease variants identified in genome-wide association studies. By uncovering the precise contexts in which these eQTLs act, single-cell approaches can unveil previously hidden regulatory effects and pinpoint important cell states underlying molecular mechanisms of disease. Here, we present an overview of recently deployed experimental designs in sc-eQTL studies. In the process, we consider the influence of study design choices such as cohort, cell states, and ex vivo perturbations. We then discuss current methodologies, modeling approaches, and technical challenges as well as future opportunities and applications.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10784788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10472932","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

Sickle Cell Disease: From Genetics to Curative Approaches. 镰状细胞病:从遗传学到治疗方法。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-120122-081037

Giulia Hardouin, Elisa Magrin, Alice Corsia, Marina Cavazzana, Annarita Miccio, Michaela Semeraro

引用次数: 0

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature. TGF-β和BMP信号通路在矮个子和高个子骨骼发育不良中的作用。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-120922-094107

Alice Costantini, Alessandra Guasto, Valérie Cormier-Daire

引用次数: 1

Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal. 大规模或全基因组测序基因组研究结果的回归：迈向新常态。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 Epub Date: 2023-03-13 DOI: 10.1146/annurev-genom-101122-103209

Susan M Wolf, Robert C Green

{"title":"Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.","authors":"Susan M Wolf, Robert C Green","doi":"10.1146/annurev-genom-101122-103209","DOIUrl":"10.1146/annurev-genom-101122-103209","url":null,"abstract":"Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research participants in order to demonstrate respect for autonomy, reciprocity, and participant interests in health and privacy. Some recommendations go further and support offering a wider range of findings, including those that are not immediately actionable. In addition, entities covered by the US Health Insurance Portability and Accountability Act (HIPAA) may be required to provide a participant's raw genomic data on request. Despite these widely endorsed guidelines and requirements, the implementation of return of genomic results and data by researchers remains uneven. This article analyzes the ethical and legal foundations for researcher duties to offer adult participants their interpreted results and raw data as the new normal in genomic research.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":7.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10237231","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

Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer. 保护隐私数据共享的联合分析：技术与法律入门。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 Epub Date: 2023-05-30 DOI: 10.1146/annurev-genom-110122-084756

James Casaletto, Alexander Bernier, Robyn McDougall, Melissa S Cline

引用次数: 0

The SWI/SNF Complex in Neural Crest Cell Development and Disease. 神经嵴细胞发育和疾病中的SWI/SNF复合体。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2023-08-25 DOI: 10.1146/annurev-genom-011723-082913

Daniel M Fountain, Tatjana Sauka-Spengler

{"title":"The SWI/SNF Complex in Neural Crest Cell Development and Disease.","authors":"Daniel M Fountain, Tatjana Sauka-Spengler","doi":"10.1146/annurev-genom-011723-082913","DOIUrl":"https://doi.org/10.1146/annurev-genom-011723-082913","url":null,"abstract":"While the neural crest cell population gives rise to an extraordinary array of derivatives, including elements of the craniofacial skeleton, skin pigmentation, and peripheral nervous system, it is today increasingly recognized that Schwann cell precursors are also multipotent. Two mammalian paralogs of the SWI/SNF (switch/sucrose nonfermentable) chromatin-remodeling complexes, BAF (Brg1-associated factors) and PBAF (polybromo-associated BAF), are critical for neural crest specification during normal mammalian development. There is increasing evidence that pathogenic variants in components of the BAF and PBAF complexes play central roles in the pathogenesis of neural crest-derived tumors. Transgenic mouse models demonstrate a temporal window early in development where pathogenic variants in Smarcb1 result in the formation of aggressive, poorly differentiated tumors, such as rhabdoid tumors. By contrast, later in development, homozygous inactivation of Smarcb1 requires additional pathogenic variants in tumor suppressor genes to drive the development of differentiated adult neoplasms derived from the neural crest, which have a comparatively good prognosis in humans.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10104707","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: 1