服务简介

服务流程

   服务优势

Ÿ   自主产权捕获平台，实现探针订制、测序、信息分析一站式服务

Ÿ   捕获范围大，可捕获约200K到50M大小基因组

Ÿ   适用于多种类型样品，包括石蜡包埋，适用于不同的测序平台（Illumina， Ion Torrent，Pyrosequencing）

Ÿ   人、微生物、动物方向均可开发

Ÿ   DNA和RNA样本均适用

Ÿ   可单独提供捕获试剂盒及配套试剂服务

Ÿ   可回邮捕获好的目标区域片段（50Mb）

序列分析深度：  对于孟德尔疾病/罕见病：有效序列分析深度>200X；
                对于肿瘤样本：有效序列分析深度>700-1000X；

                其他物种：普遍>200X，并可灵活定制。

项目周期：30个工作日——捕获试剂的设计及优化；

      45个工作日——序列分析服务及数据分析。

价格：个性化捕获订制30000元/项目，2500元/例样本

截止2017年6月2日，使用Mygenostics试剂盒发表的英文文章已达100+篇，覆盖病毒、病原微生物、免疫组库、肿瘤、单基因遗传病、耳聋、遗传性血液病、遗传性眼病、神经肌肉病、心血管疾病、肾脏疾病、免疫疾病等众多领域，以下是部分文章：

1. Zengchao Chen, Chaoting Zhang et al.T cell receptor β-chain repertoire analysis reveals intratumour heterogeneity of tumour infiltrating lymphocytes in oesophageal squamous cell carcinoma. J Pathol. 2016 Aug;239(4):450-8.

2. Yu H, Artomov M, Brähler S et al. A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.J Clin Invest. 2016 Apr 1;126(4):1603.

3. Jiang J, Tang W, An Y et al. Molecular and immunological characterization of DNA ligase IV deficiency.Clin Immunol. 2016 Feb;163:75-83.

4. Ning C, Gao S, Deng B, Zheng H et al. Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralists. J Hum Genet. 2016 Feb;61(2):103-8.

5. Shen Song, Na Yao, Min Yang et al. Exome sequencing reveals genetic differentiation due to high-altitude adaptation in the Tibetan cashmere goat (Capra hircus) .BMC Genomics. 2016 Feb 18;17:122. 

6.Liu Y, Li X, Wang Q et al. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.Brain Dev. 2016 Jan;38(1):61-7. 

7.Sun Y, Chen X, Sun J et al. A novel inherited mutation in PRKAR1A abrogates preRNA splicing in a Carney complex family.Can J Cardiol. 2015 Nov;31(11):1393-401. 

8. X.L Wang, C.J Li, Y. Xing, Y.H. Yang, J.P. Jia. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. J Inherit Metab Dis. 2015 Sep;38(5):855-61. 

9. Guo J, Cai L et al. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Sci Rep. 2015 Aug 14;5:13115. 

10. Yue D, Gao M, Zhu W et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.Neuromuscul Disord. 2015 Feb;25(2):172-6. 

11. Xuxia Liu, Tengyong Jiang et al. Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Nextgeneration Sequencing.Sci Rep. 2015 Jun 19;5:11411. 

12. Sun Y, Zhang Z, Cheng J et al. A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.J Hum Genet. 2015 Jun;60(6):299-304.

13. Zi-Bing Jin, Xiu-Feng Huang et al. SLC7A14 linked to autosomal recessive retinitis pigmentosa.Nat Commun. 2014 Mar 27;5:3517.

14. Dongyan Fan, Wei Zhu et al. Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G.A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss.PLoS One. 2014 Dec 4;9(12):e114136. 

15. Lin F, Li D, Wang P, et al.  Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2216-21.

16. Wei Q, Zhu H, Qian X et al. Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.J Transl Med. 2014 Nov 12;12:311.

17. Wang Y, Yang Y, Liu J et al. Whole dystrophin gene analysis by next‑generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Mol Genet Genomics. 2014 Oct;289(5):1013-21. 

18. Rui Gao,Yanxia Liu et al. Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model. BMC Genet. 2014 Jan 29;15:13.

19. Xing DJ, Zhang HX et al. Comprehensive molecular diagnosis of Bardet-Biedl Syndrome by high-throughput targeted exome sequencing.PLoS One. 2014 Mar 7;9(3):e90599.

20. Wang Z, Cui F, Chen D et al. Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy..Muscle Nerve. 2013 Dec;48(6):979-83.