在神经遗传学中挖掘大数据来理解肌肉萎缩症

Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining Pub Date : 2017-08-04 DOI:10.1145/3097983.3105813

A. Berglund

{"title":"在神经遗传学中挖掘大数据来理解肌肉萎缩症","authors":"A. Berglund","doi":"10.1145/3097983.3105813","DOIUrl":null,"url":null,"abstract":"The recent advances in genome sequencing and analyses of the billions of base pairs in genomic data have been a boon for moving forward our understanding of human disease. In this talk I will describe how genome sequencing has dramatically improved our understanding of the most common adult form of muscular dystrophy, which is myotonic dystrophy. Two different genetic mutations cause thousands of changes in the cells and tissues of myotonic dystrophy patients. Genome sequencing has allowed us to precisely determine the degree of changes across patients, correlate these changes to disease symptoms and allow us to determine quickly in cell and animal models the effectiveness of therapeutic strategies for myotonic dystrophy.","PeriodicalId":314049,"journal":{"name":"Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining","volume":"23 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2017-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mining Big Data in NeuroGenetics to Understand Muscular Dystrophy\",\"authors\":\"A. Berglund\",\"doi\":\"10.1145/3097983.3105813\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The recent advances in genome sequencing and analyses of the billions of base pairs in genomic data have been a boon for moving forward our understanding of human disease. In this talk I will describe how genome sequencing has dramatically improved our understanding of the most common adult form of muscular dystrophy, which is myotonic dystrophy. Two different genetic mutations cause thousands of changes in the cells and tissues of myotonic dystrophy patients. Genome sequencing has allowed us to precisely determine the degree of changes across patients, correlate these changes to disease symptoms and allow us to determine quickly in cell and animal models the effectiveness of therapeutic strategies for myotonic dystrophy.\",\"PeriodicalId\":314049,\"journal\":{\"name\":\"Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining\",\"volume\":\"23 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-08-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1145/3097983.3105813\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1145/3097983.3105813","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

最近在基因组测序和基因组数据中数十亿碱基对的分析方面取得的进展对推动我们对人类疾病的理解是一个福音。在这次演讲中，我将描述基因组测序如何极大地提高了我们对最常见的成人肌肉萎缩症的理解，即肌强直性营养不良。两种不同的基因突变导致肌强直性营养不良患者的细胞和组织发生数千种变化。基因组测序使我们能够精确地确定患者的变化程度，将这些变化与疾病症状联系起来，并使我们能够在细胞和动物模型中快速确定治疗肌强直性营养不良的策略的有效性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Mining Big Data in NeuroGenetics to Understand Muscular Dystrophy

The recent advances in genome sequencing and analyses of the billions of base pairs in genomic data have been a boon for moving forward our understanding of human disease. In this talk I will describe how genome sequencing has dramatically improved our understanding of the most common adult form of muscular dystrophy, which is myotonic dystrophy. Two different genetic mutations cause thousands of changes in the cells and tissues of myotonic dystrophy patients. Genome sequencing has allowed us to precisely determine the degree of changes across patients, correlate these changes to disease symptoms and allow us to determine quickly in cell and animal models the effectiveness of therapeutic strategies for myotonic dystrophy.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Proceedings of the 23rd ACM SIGKDD International Conference on Knowledge Discovery and Data Mining

自引率

0.00%

发文量