Annual review of genomics and human genetics最新文献_第10页

The Regulation of Mitochondrial Replacement Techniques Around the World. 全球对线粒体替代技术的监管。

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-111119-101815

I Glenn Cohen, Eli Y Adashi, Sara Gerke, César Palacios-González, Vardit Ravitsky

引用次数: 18

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange. 新型孟德尔病基因发现的基因组数据共享:媒人交换。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-27 DOI: 10.1146/annurev-genom-083118-014915

Danielle R Azzariti, Ada Hamosh

{"title":"Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.","authors":"Danielle R Azzariti, Ada Hamosh","doi":"10.1146/annurev-genom-083118-014915","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-014915","url":null,"abstract":"In the last decade, exome and/or genome sequencing has become a common test in the diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this test leaves the majority of tested individuals undiagnosed. This review describes the Matchmaker Exchange (MME), a federated network established to facilitate the solving of undiagnosed rare-disease cases through data sharing. MME supports genomic matchmaking, the act of connecting two or more parties looking for cases with similar phenotypes and variants in the same candidate genes. An application programming interface currently connects six matchmaker nodes-the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER), GeneMatcher, PhenomeCentral, seqr, MyGene2, and the Initiative on Rare and Undiagnosed Diseases (IRUD) Exchange-resulting in a collective data set spanning more than 150,000 cases from more than 11,000 contributors in 88 countries. Here, we describe the successes and challenges of MME, its individual matchmaking nodes, plans for growing the network, and considerations for future directions.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-014915","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37875847","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: 29

Cell Lineage Tracing and Cellular Diversity in Humans. 人类细胞谱系追踪和细胞多样性。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-15 DOI: 10.1146/annurev-genom-083118-015241

Alexej Abyzov, Flora M Vaccarino

引用次数: 9

Genetic Influences on Disease Subtypes. 基因对疾病亚型的影响。

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-120319-095026

Andy Dahl, Noah Zaitlen

{"title":"Genetic Influences on Disease Subtypes.","authors":"Andy Dahl, Noah Zaitlen","doi":"10.1146/annurev-genom-120319-095026","DOIUrl":"https://doi.org/10.1146/annurev-genom-120319-095026","url":null,"abstract":"Disease classification, or nosology, was historically driven by careful examination of clinical features of patients. As technologies to measure and understand human phenotypes advanced, so too did classifications of disease, and the advent of genetic data has led to a surge in genetic subtyping in the past decades. Although the fundamental process of refining disease definitions and subtypes is shared across diverse fields, each field is driven by its own goals and technological expertise, leading to inconsistent and conflicting definitions of disease subtypes. Here, we review several classical and recent subtypes and subtyping approaches and provide concrete definitions to delineate subtypes. In particular, we focus on subtypes with distinct causal disease biology, which are of primary interest to scientists, and subtypes with pragmatic medical benefits, which are of primary interest to physicians. We propose genetic heterogeneity as a gold standard for establishing biologically distinct subtypes of complex polygenic disease. We focus especially on methods to find and validate genetic subtypes, emphasizing common pitfalls and how to avoid them.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-120319-095026","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38333527","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: 20

Population Screening for Inherited Predisposition to Breast and Ovarian Cancer. 乳腺癌和卵巢癌遗传倾向的人群筛查。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-21 DOI: 10.1146/annurev-genom-083118-015253

Ranjit Manchanda, Sari Lieberman, Faiza Gaba, Amnon Lahad, Ephrat Levy-Lahad

{"title":"Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.","authors":"Ranjit Manchanda, Sari Lieberman, Faiza Gaba, Amnon Lahad, Ephrat Levy-Lahad","doi":"10.1146/annurev-genom-083118-015253","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015253","url":null,"abstract":"The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the BRCA1 and BRCA2 genes, fulfills classical disease screening criteria. This is especially true for BRCA1 and BRCA2 in Ashkenazi Jews but is translatable to all populations and may include additional genes. Utilizing genetic information for large-scale precision prevention requires a paradigmatic shift in health-care delivery. To address this need, we propose a direct-to-patient model, which is increasingly pertinent for fulfilling the promise of utilizing personal genomic information for disease prevention.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015253","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37857122","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: 23

An Accidental Genetic Epidemiologist. 偶然遗传流行病学家。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-01-14 DOI: 10.1146/annurev-genom-103119-125052

Robert C Elston

引用次数: 0

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases. 未诊断罕见遗传病的新诊断方法。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-13 DOI: 10.1146/annurev-genom-083118-015345

Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott

{"title":"New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.","authors":"Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott","doi":"10.1146/annurev-genom-083118-015345","DOIUrl":"https://doi.org/10.1146/annurev-genom-083118-015345","url":null,"abstract":"Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-083118-015345","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37830020","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: 55

Using Single-Cell and Spatial Transcriptomes to Understand Stem Cell Lineage Specification During Early Embryo Development. 利用单细胞和空间转录组了解胚胎早期发育过程中的干细胞谱系特征。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-27 DOI: 10.1146/annurev-genom-120219-083220

Guangdun Peng, Guizhong Cui, Jincan Ke, Naihe Jing

引用次数: 26

The Genetics of Epilepsy. 癫痫的遗传学。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-04-27 DOI: 10.1146/annurev-genom-120219-074937

Piero Perucca, Melanie Bahlo, Samuel F Berkovic

引用次数: 73

Pangenome Graphs. Pangenome Graphs。

IF 8.7 2区生物学

Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-26 DOI: 10.1146/annurev-genom-120219-080406

Jordan M Eizenga, Adam M Novak, Jonas A Sibbesen, Simon Heumos, Ali Ghaffaari, Glenn Hickey, Xian Chang, Josiah D Seaman, Robin Rounthwaite, Jana Ebler, Mikko Rautiainen, Shilpa Garg, Benedict Paten, Tobias Marschall, Jouni Sirén, Erik Garrison

{"title":"Pangenome Graphs.","authors":"Jordan M Eizenga, Adam M Novak, Jonas A Sibbesen, Simon Heumos, Ali Ghaffaari, Glenn Hickey, Xian Chang, Josiah D Seaman, Robin Rounthwaite, Jana Ebler, Mikko Rautiainen, Shilpa Garg, Benedict Paten, Tobias Marschall, Jouni Sirén, Erik Garrison","doi":"10.1146/annurev-genom-120219-080406","DOIUrl":"https://doi.org/10.1146/annurev-genom-120219-080406","url":null,"abstract":"Low-cost whole-genome assembly has enabled the collection of haplotype-resolved pangenomes for numerous organisms. In turn, this technological change is encouraging the development of methods that can precisely address the sequence and variation described in large collections of related genomes. These approaches often use graphical models of the pangenome to support algorithms for sequence alignment, visualization, functional genomics, and association studies. The additional information provided to these methods by the pangenome allows them to achieve superior performance on a variety of bioinformatic tasks, including read alignment, variant calling, and genotyping. Pangenome graphs stand to become a ubiquitous tool in genomics. Although it is unclear whether they will replace linearreference genomes, their ability to harmoniously relate multiple sequence and coordinate systems will make them useful irrespective of which pangenomic models become most common in the future.","PeriodicalId":8231,"journal":{"name":"Annual review of genomics and human genetics","volume":null,"pages":null},"PeriodicalIF":8.7,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-genom-120219-080406","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37977111","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: 92