往期精品(点击图片直达文字对应教程)

后台回复“生信宝典福利第一波”或点击阅读原文获取教程合集

(请备注姓名-学校/企业-职务等)

参考文献:

[1]《基因组学》杨焕明, 科学出版社 2016

[2]《基因组: 人种自传23章》[英]马特·里德/著, 刘菁/译, 北京理工大学出版社 2003

[3]《实用遗传咨询》(英)P.S.哈珀, 科学出版社 2018

[4]《临床遗传咨询》陆国辉, 北京大学医学出版社

[5]《临床遗传代谢病》顾学范,人民卫生出版社 2015

[6]《医学遗传学》邬玲仟, 张学, 人民卫生出版社 2016:457-461

[7] U.S National Library of Medicine. (2019)

[8] Miga KH. 2016. Chromosome-specific centromere sequences provide an estimate of the ancestral chromosome 2 fusion event in hominin genomes. J Hered. 108(1):45–52.

[9] Stankiewicz P. One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?. Mol Cytogenet. 2016;9:72. Published 2016 Sep 26. doi:10.1186/s13039-016-0283-3

[10] International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology. 1994;44:1533–6.

[11] Hillier, L., Graves, T., Fulton, R. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature 434, 724–731 (2005).

[12] Avis T, Clark EK, Flack TL, Mohammadi M, Milne S, Niblett D, Palmer S, Phillips S, Smalley C, Tagney M, Thorpe KL, Tubby B, Westrop J, Beck S. The chromosome 6 sequencing project at the Sanger Centre. DNA Sequence. 1997;8:131–136.

[13] Tiwari, J. L. & Terasaki, P. I. HLA and Disease Associations (Springer Verlag, Berlin, 1985)

[14] Avis T, Clark EK, Flack TL, Mohammadi M, Milne S, Niblett D, Palmer S, Phillips S, Smalley C, Tagney M, Thorpe KL, Tubby B, Westrop J, Beck S. The chromosome 6 sequencing project at the Sanger Centre. DNA Sequence. 1997;8:131–136.

[15] Mungall, A. J. et al. The DNA sequence and analysis of human chromosome 6. Nature 25, 805-811 ( October 23, 2003 ).

[16] Lenhoff, H. M., Perales, O., Hickok, G. Absolute pitch in Williams syndrome. Music Perception 18: 491-503, 2001.

[17] Scherer SW, Cheung J, MacDonald JR, et al. Human chromosome 7: DNA sequence and biology. Science. 300 (5620): 767–72.

[18] Huppi K, Pitt JJ, Wahlberg BM, Caplen NJ. The 8q24 gene desert: an oasis of non-coding transcriptional activity. Front Genet. 2012;3:69. Published 2012 Apr 30. doi:10.3389/fgene.2012.00069

[19] Nusbaum, C., Mikkelsen, T., Zody, M. et al. DNA sequence and analysis of human chromosome 8. Nature 439, 331–335 (2006).

[20] Tabarés-Seisdedos R, Rubenstein JL. Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer. Mol Psychiatry. 2009, 14 (6): 563–89.

[21]Patterson, D.Molecular genetic analysis of Down syndrome. Human Genetics. 2009, 126 (1): 195–214.

[22] Weijerman ME, de Winter JP. "Clinical practice. The care of children with Down syndrome.". European journal of pediatrics. 2010, 169 (12): 1445–52.

[23] Hickey F, Hickey E, Summar KL. Medical update for children with Down syndrome for the pediatrician and family practitioner. Advances in Pediatrics. 59 (1): 137–57.

[24] Chervenak, FA, McCullough, LB. Ethical considerations in first-trimester Down syndrome risk assessment. Current opinion in obstetrics & gynecology. 22 (2): 135–8.

[25] World Down Syndrome Day. Down Syndrome International. Retrieved 2 February 2014.

[26] Deloukas, P., Earthrowl, M., Grafham, D. et al. The DNA sequence and comparative analysis of human chromosome 10. Nature 429, 375–381 (2004).

[27] Riaz N; Steinberg S; Ahmad J; et al. Genomewide significant linkage to stuttering on chromosome 12. Am. J. Hum. Genet. April 2005, 76 (4): 647–51.

[28] Leem, S., Londoño-Vallejo, J., Kim, J. et al. The human telomerase gene: complete genomic sequence and analysis of tandem repeat polymorphisms in intronic regions. Oncogene 21, 769–777 (2002).

[29] Cong YS, Wright WE, Shay JW. Human telomerase and its regulation. Microbiol Mol Biol Rev. 2002;66(3):407–425. doi:10.1128/mmbr.66.3.407-425.2002

[30] Hanahan D, Weinberg RA. Hallmarks of cancer: the next generation. Cell. 2011;144(5):646–674. doi:10.1016/j.cell.2011.02.013

[31] Gene Therapy of the Central Nervous System: From Bench to Bedside, edited by Michael G. Kaplitt and Matthew J. During. Amsterdam: Elsevier, 2006.

[32] Martin, J., Han, C., Gordon, L. et al. The sequence and analysis of duplication-rich human chromosome 16. Nature 432, 988–994 (2004).

[33] Angelina Jolie. My Medical Choice[J]. The New York Times, 2015.

[34] Nusbaum, C., Zody, M., Borowsky, M. et al. DNA sequence and analysis of human chromosome 18. Nature 437, 551–555 (2005).

[35] Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America. 1993;90(5):1977–81.

[36] Burns A, Iliffe S. Alzheimer's disease[J]. The BMJ. 2009, 338: b158.

[37] "Creutzfeldt–Jakob Disease Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. March 2003. Archived from the original on 4 July 2017. Retrieved 16 July 2017.

[38] 范明远. 人类疯牛病(变异型克雅氏病) [J]. 实用预防医学, 2003, 010(001):116-119.

[39] Wenger, T.L., Miller, J.S., DePolo, L.M. et al. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Molecular Autism 7, 27 (2016).

[40] Phelan K, Phelan K, McDermid H, E: The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol 2011;2:186-201. doi: 10.1159/000334260

[41] Ko JM, Kim JB, Pai KS, Yun JN, Park SJ.   Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome.   J Korean Med Sci. 2010 Dec;25(12):1798-1801.

[42] Dunham, I., Hunt, A., Collins, J. et al. The DNA sequence of human chromosome 22. Nature 402, 489–495 (1999).

[43] David H. Skuse, X-linked genes and mental functioning, Human Molecular Genetics, Volume 14, Issue suppl_1, 15 April 2005, Pages R27–R32,

[44] Aitken, R. John, and Jennifer A. Marshall Graves. "Human spermatozoa: the future of sex." Nature 415.6875 (2002): 963.

[45] https://www.nature.com/articles/nature04727

[46] http://asia.ensembl.org/

[47] https://en.wikipedia.org/wiki/Chromosome

[48] http://www.ncbi.nlm.nih.gov/Omim/mimstats.html

[49] https://www.nhs.uk/news/cancer/why-elephants-hardly-ever-get-cancer-and-how-that-can-help-us/

[50] OMIM: 194050

[51] OMIM: 202110

[52] OMIM: 176943

[53] OMIM: 601728

[54] OMIM: 164761

[55] OMIM: 130650

[56] OMIM: 600160

[57] OMIM: 230400

[58] OMIM: 605284

[59] OMIM: 183090

[60] OMIM: 191170

滑动查看

“嘿,我们又见面了!”相关推荐

  1. mysql关于时间的面试题,mysql时间设置默认值MySQL常见面试题

    1.limit(选出10 到20 条) select * from students order by id limit 9,10; 2.MySQL 会使用索引的操作符号 =,>,=,betwe ...

  2. java类型转换面试题_JavaSE:数据类型之间的转换(附常见面试题)

    数据类型之间的转换 分为以下几种情况: 1)低级到高级的自动类型转换: 2)高级到低级的强制类型转换(会导致溢出或丢失精度): 3)基本类型向类类型转换: 4)基本类型向字符串的转换: 5)类类型向字 ...

  3. Spring常见面试题及答案汇总1000道(春招+秋招+社招)

    Spring面试题以及答案整理[最新版]Spring高级面试题大全(2021版),发现网上很多Spring面试题都没有答案,所以花了很长时间搜集,本套Spring面试题大全,汇总了大量经典的Sprin ...

  4. Java多线程常见面试题及答案汇总1000道(春招+秋招+社招)

    Java多线程面试题以及答案整理[最新版]Java多线程高级面试题大全(2021版),发现网上很多Java多线程面试题都没有答案,所以花了很长时间搜集,本套Java多线程面试题大全,汇总了大量经典的J ...

  5. MySQL常见面试题及答案汇总1000道(春招+秋招+社招)

    MySQL面试题以及答案整理[最新版]MySQL高级面试题大全(2021版),发现网上很多MySQL面试题都没有答案,所以花了很长时间搜集,本套MySQL面试题大全,汇总了大量经典的MySQL程序员面 ...

  6. Jvm常见面试题及答案汇总1000道(春招+秋招+社招)

    Jvm面试题以及答案整理[最新版]Jvm高级面试题大全(2021版),发现网上很多Jvm面试题都没有答案,所以花了很长时间搜集,本套Jvm面试题大全,汇总了大量经典的Jvm程序员面试题以及答案,包含J ...

  7. Dubbo常见面试题及答案汇总1000道(春招+秋招+社招)

    Dubbo面试题以及答案整理[最新版]Dubbo高级面试题大全(2021版),发现网上很多Dubbo面试题都没有答案,所以花了很长时间搜集,本套Dubbo面试题大全,汇总了大量经典的Dubbo程序员面 ...

  8. Java常见面试题,2021年及答案汇总

    Java常见面试题,2021年及答案汇总 其实,博主还整理了,更多大厂面试题,直接下载吧 下载链接:高清172份,累计 7701 页大厂面试题 PDF 1.什么是ThreadPoolExecutor? ...

  9. mybatis基础综合/常见面试题

    概念/作用: 持久层框架,通过xml或注解的方式将要执行的各种 statement配置起来,并通过java对象和statement中sql的动态参数进行映射生成最终执行的sql语句.最后mybatis ...

  10. Python爬虫常见面试题(二)

    前言 之所以在这里写下python爬虫常见面试题及解答 一是用作笔记,方便日后回忆: 二是给自己一个和大家交流的机会,互相学习.进步,希望不正之处大家能给予指正: 三是我也是互联网寒潮下岗的那批人之一 ...

最新文章

  1. 初学者如何搭建一个自己专属的电子实验室?
  2. BERT相关模型汇总梳理
  3. android微信动画制作,动画制作轻量级SDK:PAG六大优势助力开发
  4. mysql数据生产数据分析_基于MySQL玩转SQL数据分析课程 互联网数据分析师-SQL数据分析实战视频教程...
  5. Android项目实战(二):安卓应用程序退出的三种方法
  6. python difflib模块_Python一起来找茬—difflib模块
  7. Python编程工具:Jupyter notebook
  8. 随便说说字符集和编码
  9. Unity+Kinect 开发脚本介绍
  10. joomla网页加速插件
  11. 暑假计算机教育培训总结,暑假信息技术培训心得
  12. Gitea配置文件说明
  13. Web安全技术—常见的攻击和防御
  14. 465端口发邮件php,在centos上打开端口465 for smtp的问题
  15. C/C++面试感受和经验以及面试题收藏
  16. H3C服务器重做RAID
  17. Word中“更新所有域”的用法
  18. FPGA_PCB 设计之一3.3V-LVTTL与3.3V-LVCMOS区别
  19. 汶川大地震祭(新京报【逝者特刊】卷首语)——转载
  20. Python-入门学习

热门文章

  1. 【HTML5】HTML5支持的通用属性
  2. 神经网络快速搭建之一站式访问
  3. 从前端html 来限制删除去掉csdn页面广告
  4. linux下git的使用
  5. 【Dart学习】-- Dart之泛型
  6. lazy-mock ,一个生成后端模拟数据的懒人工具
  7. jQuery的实现原理和核心
  8. 笔记《javascript高级程序设计》 第12章 DOM2和DOM3
  9. PHP正则表达式函数用法
  10. CIO必看:7个常见但一定要避免的数据治理错误