The Rare Diseases Pilot for the 100,000 Genomes Project: Findings in Known and New Genes by Analysis of 3,549 Whole Genome Sequenced Samples from Patients and Relatives with Haematological, Haemostasis and Immune Disorders

Sivapalaratnam Suthesh; Bioresource Nihr

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The Rare Diseases Pilot for the 100,000 Genomes Project: Findings in Known and New Genes by Analysis of 3,549 Whole Genome Sequenced Samples from Patients and Relatives with Haematological, Haemostasis and Immune Disorders

机译：100,000个基因组项目的罕见疾病试点：通过分析来自患者和亲属的3,549个全基因组测序样品的已知和新基因的发现，血液学，呼吸和免疫障碍

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来源
《Blood: The Journal of the American Society of Hematology》 |2018年第novaelatreatmentappr期|共2页
作者
Sivapalaratnam Suthesh; Bioresource Nihr;
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作者单位

QMUL Ctr Immunobiol London England;

NIHR Cambridge CB2 0PT England;

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原文格式 PDF
正文语种 eng
中图分类血液及淋巴系疾病;
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1. The Rare Diseases Pilot for the 100,000 Genomes Project: Findings in Known and New Genes by Analysis of 3,549 Whole Genome Sequenced Samples from Patients and Relatives with Haematological, Haemostasis and Immune Disorders [J] . Sivapalaratnam Suthesh, Bioresource Nihr Blood: The Journal of the American Society of Hematology . 2018,第NovaelaTreatmentAppr期

机译：100,000个基因组项目的罕见疾病试点：通过分析来自患者和亲属的3,549个全基因组测序样品的已知和新基因的发现，血液学，呼吸和免疫障碍
2. The Cancer Programme of the 100,000 Genomes Project: Whole genome sequencing (WGS) of tumours to identify potentially actionable genes and novel therapeutic options via tumour specific clinical trials [J] . Morrissey G. J., Murugaesu N., Pettengell R., British Journal of Clinical Pharmacology . 2019,第7期

机译：100,000种基因组项目的癌症计划：全基因组测序（WGS）肿瘤通过肿瘤特异性临床试验确定潜在可动的基因和新型治疗选择
3. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations [J] . Madeline H. Kowalski, Huijun Qian, Ziyi Hou, PLoS Genetics . 2019,第12期

机译：在精密医学（TOPMed）联盟中使用> 100,000 NHLBI Trans-Omics进行全基因组测序可提高非洲和西班牙裔/拉丁美洲裔混合人群的插补质量和稀有变异体的检测
4. Evaluation and Fuzzy Classification of Gene Finding Programs on Human Genome Sequences [C] . Atulya Nagar, Sujita Purushothaman, Hissam Tawfik International Conference on Fuzzy Systems and Knowledge Discovery . 2005

机译：基因查找计划对人类基因组序列的评价和模糊分类
5. Gene mapping of monogenic disorders and complex diseases via genome wide association studies. [D] . Zhao, Xia. 2012

机译：通过全基因组关联研究对单基因疾病和复杂疾病进行基因定位。
6. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants [O] . Miriam S. Reuter, Susan Walker, Bhooma Thiruvahindrapuram, 2018

机译：加拿大个人基因组计划：来自首批56位参与者的全基因组序列的发现
7. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations [O] . Madeline H. Kowalski, Huijun Qian, Ziyi Hou, 2019

机译：使用> 100,000个NHLBI Trans-OMICS用于精密药物（旋皮）全基因组序列提高了混合非洲和西班牙裔/拉丁裔群体中的侮辱性质量和检测

The Rare Diseases Pilot for the 100,000 Genomes Project: Findings in Known and New Genes by Analysis of 3,549 Whole Genome Sequenced Samples from Patients and Relatives with Haematological, Haemostasis and Immune Disorders

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