Annual review of genomics and human genetics最新文献_第7页

The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology. 英国生物库：全基因组关联研究科学的光辉典范，有能力检测真实世界流行病学的复杂性。

IF 7.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-05-04 DOI: 10.1146/annurev-genom-121321-093606

Vanessa Y Tan, Nicholas J Timpson

{"title":"The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology.","authors":"Vanessa Y Tan, Nicholas J Timpson","doi":"10.1146/annurev-genom-121321-093606","DOIUrl":"10.1146/annurev-genom-121321-093606","url":null,"abstract":"Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants that are reliably associated with human traits. Although GWASs are restricted to certain variant frequencies, they have improved our understanding of the genetic architecture of complex traits and diseases. The UK Biobank (UKBB) has brought substantial analytical opportunity and performance to association studies. The dramatic expansion of many GWAS sample sizes afforded by the inclusion of UKBB data has improved the power of estimation of effect sizes but, critically, has done so in a context where phenotypic depth and precision enable outcome dissection and the application of epidemiological approaches. However, at the same time, the availability of such a large, well-curated, and deeply measured population-based collection has the capacity to increase our exposure to the many complications and inferential complexities associated with GWASs and other analyses. In this review, we discuss the impact that UKBB has had in the GWAS era, some of the opportunities that it brings, and exemplar challenges that illustrate the reality of using data from this world-leading resource.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"569-589"},"PeriodicalIF":7.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10271092","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: 0

Population Screening in Health Systems. 卫生系统中的人口筛查。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-02-17 DOI: 10.1146/annurev-genom-111221-115239

Marc S Williams

引用次数: 7

Extrachromosomal DNA in Cancer. 癌症染色体外DNA。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-05-24 DOI: 10.1146/annurev-genom-120821-100535

Vineet Bafna, Paul S Mischel

{"title":"Extrachromosomal DNA in Cancer.","authors":"Vineet Bafna, Paul S Mischel","doi":"10.1146/annurev-genom-120821-100535","DOIUrl":"10.1146/annurev-genom-120821-100535","url":null,"abstract":"In cancer, complex genome rearrangements and other structural alterations, including the amplification of oncogenes on circular extrachromosomal DNA (ecDNA) elements, drive the formation and progression of tumors. ecDNA is a particularly challenging structural alteration. By untethering oncogenes from chromosomal constraints, it elevates oncogene copy number, drives intratumoral genetic heterogeneity, promotes rapid tumor evolution, and results in treatment resistance. The profound changes in DNA shape and nuclear architecture generated by ecDNA alter the transcriptional landscape of tumors by catalyzing new types of regulatory interactions that do not occur on chromosomes. The current suite of tools for interrogating cancer genomes is well suited for deciphering sequence but has limited ability to resolve the complex changes in DNA structure and dynamics that ecDNA generates. Here, we review the challenges of resolving ecDNA form and function and discuss the emerging tool kit for deciphering ecDNA architecture and spatial organization, including what has been learned to date about how this dramatic change in shape alters tumor development, progression, and drug resistance.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"29-52"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508221/pdf/nihms-1907774.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9701963","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: 10

Advancing Pharmacogenomics from Single-Gene to Preemptive Testing. 推进药物基因组学从单基因到抢先检测。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-111621-102737

Cyrine E Haidar, Kristine R Crews, James M Hoffman, Mary V Relling, Kelly E Caudle

引用次数: 7

Regulation of Molecular Diagnostics. 分子诊断学调控。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-121521-010416

Gail H Javitt, Erik R Vollebregt

引用次数: 2

The Next Frontier in Noninvasive Prenatal Diagnostics: Cell-Free Fetal DNA Analysis for Monogenic Disease Assessment. 无创产前诊断的下一个前沿:单基因疾病评估的无细胞胎儿DNA分析。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 Epub Date: 2022-03-22 DOI: 10.1146/annurev-genom-110821-113411

Lilian Pok Wa Zhong, Rossa W K Chiu

引用次数: 5

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. 肿瘤抑制基因综合征中的镶嵌现象:患病率、诊断策略和传播风险。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-120121-105450

Jillian L Chen, David T Miller, Laura S Schmidt, David Malkin, Bruce R Korf, Charis Eng, David J Kwiatkowski, Krinio Giannikou

{"title":"Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.","authors":"Jillian L Chen, David T Miller, Laura S Schmidt, David Malkin, Bruce R Korf, Charis Eng, David J Kwiatkowski, Krinio Giannikou","doi":"10.1146/annurev-genom-120121-105450","DOIUrl":"https://doi.org/10.1146/annurev-genom-120121-105450","url":null,"abstract":"A mosaic state arises when pathogenic variants are acquired in certain cell lineages during postzygotic development, and mosaic individuals may present with a generalized or localized phenotype. Here, we review the current state of knowledge regarding mosaicism for eight common tumor suppressor genes-NF1, NF2, TSC1, TSC2, PTEN, VHL, RB1, and TP53-and their related genetic syndromes/entities. We compare and discuss approaches for comprehensive diagnostic genetic testing, the spectrum of variant allele frequency, and disease severity. We also review affected individuals who have no mutation identified after conventional genetic analysis, as well as genotype-phenotype correlations and transmission risk for each tumor suppressor gene in full heterozygous and mosaic patients. This review provides new insight into similarities as well as marked differences regarding the appreciation of mosaicism in these tumor suppressor syndromes.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":" ","pages":"331-361"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40333597","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: 5

Maintaining Transcriptional Specificity Through Mitosis. 通过有丝分裂维持转录特异性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-121321-094603

Kenji Ito, Kenneth S Zaret

{"title":"Maintaining Transcriptional Specificity Through Mitosis.","authors":"Kenji Ito, Kenneth S Zaret","doi":"10.1146/annurev-genom-121321-094603","DOIUrl":"https://doi.org/10.1146/annurev-genom-121321-094603","url":null,"abstract":"Virtually all cell types have the same DNA, yet each type exhibits its own cell-specific pattern of gene expression. During the brief period of mitosis, the chromosomes exhibit changes in protein composition and modifications, a marked condensation, and a consequent reduction in transcription. Yet as cells exit mitosis, they reactivate their cell-specific programs with high fidelity. Initially, the field focused on the subset of transcription factors that are selectively retained in, and hence bookmark, chromatin in mitosis. However, recent studies show that many transcription factors can be retained in mitotic chromatin and that, surprisingly, such retention can be due to nonspecific chromatin binding. Here, we review the latest studies focusing on low-level transcription via promoters, rather than enhancers, as contributing to mitotic memory, as well as new insights into chromosome structure dynamics, histone modifications, cell cycle signaling, and nuclear envelope proteins that together ensure the fidelity of gene expression through a round of mitosis.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":"23 ","pages":"53-71"},"PeriodicalIF":8.7,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976632/pdf/nihms-1873036.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10813511","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: 10

The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection. 胸主动脉瘤及夹层的遗传学及典型特征。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-111521-104455

Jotte Rodrigues Bento, Josephina Meester, Ilse Luyckx, Silke Peeters, Aline Verstraeten, Bart Loeys

引用次数: 9

Predicting Archaic Hominin Phenotypes from Genomic Data. 从基因组数据预测古人类表型。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2022-08-31 DOI: 10.1146/annurev-genom-111521-121903

Colin M Brand, Laura L Colbran, John A Capra

引用次数: 7