Is 'forward' the same as 'plus'?…and other adventures in SNP allele nomenclature.
作者信息
Nelson Sarah C, Doheny Kimberly F, Laurie Cathy C, Mirel Daniel B
出版信息
Trends Genet. 2012 Aug;28(8):361-3. doi: 10.1016/j.tig.2012.05.002. Epub 2012 Jun 2.
Abstract
摘要
相似文献
1
Is 'forward' the same as 'plus'?…and other adventures in SNP allele nomenclature.“正向”与“加”相同吗？……以及单核苷酸多态性等位基因命名法中的其他问题
Trends Genet. 2012 Aug;28(8):361-3. doi: 10.1016/j.tig.2012.05.002. Epub 2012 Jun 2.
2
Human cytochrome P450 (CYP) genes: recommendations for the nomenclature of alleles.人类细胞色素P450（CYP）基因：等位基因命名建议
Pharmacogenetics. 2000 Feb;10(1):91-3. doi: 10.1097/00008571-200002000-00012.
3
Update on allele nomenclature for human cytochromes P450 and the Human Cytochrome P450 Allele (CYP-allele) Nomenclature Database.人类细胞色素P450等位基因命名法及人类细胞色素P450等位基因（CYP-allele）命名数据库的更新
Methods Mol Biol. 2013;987:251-9. doi: 10.1007/978-1-62703-321-3_21.
4
Nomenclature for red blood cell blood group alleles.
Transfusion. 2013 Nov;53(11 Suppl 2):2844-6. doi: 10.1111/trf.12407. Epub 2013 Aug 27.
5
The ever-expanding list of HLA alleles: changing HLA nomenclature and its relevance to clinical transplantation.不断扩展的 HLA 等位基因列表：改变 HLA 命名法及其与临床移植的相关性。
Transplant Rev (Orlando). 2011 Jan;25(1):1-8. doi: 10.1016/j.trre.2010.08.001. Epub 2010 Oct 27.
6
Nomenclature for human CYP2D6 alleles.人类CYP2D6等位基因的命名法。
Pharmacogenetics. 1996 Jun;6(3):193-201. doi: 10.1097/00008571-199606000-00001.
7
Nomenclature for human DPYD alleles.人类DPYD等位基因的命名法。
Pharmacogenetics. 1998 Dec;8(6):455-9. doi: 10.1097/00008571-199812000-00001.
8
Nomenclature proposal and SNPSTR haplotypes for 7 new Cannabis sativa L. STR loci.7个新的大麻（Cannabis sativa L.）STR基因座的命名建议和SNPSTR单倍型
Forensic Sci Int Genet. 2014 Nov;13:185-6. doi: 10.1016/j.fsigen.2014.08.002. Epub 2014 Aug 9.
9
GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies.GACT：一种用于基因关联研究中SNP插补和荟萃分析的基因组构建与等位基因定义转换工具。
BMC Genomics. 2014 Jul 19;15:610. doi: 10.1186/1471-2164-15-610.
10
Metabolic gene allele nomenclature.代谢基因等位基因命名法。
Cancer Epidemiol Biomarkers Prev. 2001 Dec;10(12):1305-6.
引用本文的文献
1
Lifting of the 1,000 wheat exome project SNPs from Triticum aestivum cv. Chinese Spring assembly RefSeq v1.0 to RefSeq v2.1.从中国春小麦 RefSeq v1.0 组装体中提取 1000 个小麦外显子项目 SNP 并转移到 RefSeq v2.1。
BMC Res Notes. 2023 Sep 14;16(1):220. doi: 10.1186/s13104-023-06496-8.
2
Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing.人类参考基因组构建体之间的反向基因组区域会影响基因分型准确性，并降低关联测试的功效。
HGG Adv. 2022 Nov 11;4(1):100159. doi: 10.1016/j.xhgg.2022.100159. eCollection 2023 Jan 12.
3
SNP allele calling of Illumina Infinium Omni5-4 data using the butterfly method.利用蝴蝶法对 Illumina Infinium Omni5-4 数据进行 SNP 等位基因调用。
Sci Rep. 2022 Oct 12;12(1):17131. doi: 10.1038/s41598-022-22162-8.
4
Population genetics of PDE4B (phosphodiesterase-4B) in neglected Native Americans: Implications for cancer pharmacogenetics.被忽视的美洲原住民中 PDE4B（磷酸二酯酶 4B）的群体遗传学：对癌症药物遗传学的启示。
Clin Transl Sci. 2022 Jun;15(6):1400-1405. doi: 10.1111/cts.13266. Epub 2022 Mar 28.
5
Recipient and donor genetic variants associated with mortality after allogeneic hematopoietic cell transplantation.同种异体造血细胞移植后与死亡率相关的受者和供者遗传变异。
Blood Adv. 2020 Jul 28;4(14):3224-3233. doi: 10.1182/bloodadvances.2020001927.
6
Overcoming polyploidy pitfalls: a user guide for effective SNP conversion into KASP markers in wheat.克服多倍体陷阱：小麦中有效 SNP 转化为 KASP 标记的用户指南。
Theor Appl Genet. 2020 Aug;133(8):2413-2430. doi: 10.1007/s00122-020-03608-x. Epub 2020 Jun 4.
7
Strategies for processing and quality control of Illumina genotyping arrays.Illumina 基因分型芯片的处理和质量控制策略。
Brief Bioinform. 2018 Sep 28;19(5):765-775. doi: 10.1093/bib/bbx012.
8
TheSNPpit-A High Performance Database System for Managing Large Scale SNP Data.SNPpit - 一个用于管理大规模SNP数据的高性能数据库系统。
PLoS One. 2016 Oct 25;11(10):e0164043. doi: 10.1371/journal.pone.0164043. eCollection 2016.
9
Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).在西班牙裔/拉丁裔人群中，使用更大且更多样化的参考面板可提高归因准确性：西班牙裔社区健康研究/拉丁裔研究（HCHS/SOL）中的应用。
Hum Mol Genet. 2016 Aug 1;25(15):3245-3254. doi: 10.1093/hmg/ddw174. Epub 2016 Jun 26.
10
Population-specific genotype imputations using minimac or IMPUTE2.基于 minimac 或 IMPUTE2 的人群特异性基因型推断。
Nat Protoc. 2015 Sep;10(9):1285-96. doi: 10.1038/nprot.2015.077. Epub 2015 Jul 30.
本文引用的文献
1
The multiple personalities of Watson and Crick strands.沃森和克里克链的多重人格。
Biol Direct. 2011 Feb 8;6:7. doi: 10.1186/1745-6150-6-7.
2
Integrating common and rare genetic variation in diverse human populations.整合不同人类群体中的常见和罕见遗传变异。
Nature. 2010 Sep 2;467(7311):52-8. doi: 10.1038/nature09298.
3
A second generation human haplotype map of over 3.1 million SNPs.一张包含超过310万个单核苷酸多态性的第二代人类单倍型图谱。
Nature. 2007 Oct 18;449(7164):851-61. doi: 10.1038/nature06258.
4
The DNA sequence of human chromosome 22.人类22号染色体的DNA序列。
Nature. 1999 Dec 2;402(6761):489-95. doi: 10.1038/990031.
5
SGD: Saccharomyces Genome Database.SGD：酿酒酵母基因组数据库。
Nucleic Acids Res. 1998 Jan 1;26(1):73-9. doi: 10.1093/nar/26.1.73.
Zotero 插件