SMNCopyNumberCaller SMNCopyNumberCaller是一个工具,可从全基因组测序(WGS)BAM文件中调用全长SMN1,全长SMN2以及SMN2Δ7-8(带有Exon7-8的删除的SMN2)的副本号。 该调用者可使用标准WGS测序深度(> = 30X),并且对各种比对剂不敏感(已测试BWA和Isaac,未观察到差异)。 有关该方法的详细信息,请参阅我们的。
33、式中,x为smn1的拷贝数,y为smn2的拷贝数,vaf(variant allel frequency)变异等位基因频率,cn(copy number)拷贝数; 34、s9、因为smn1和smn2捕获不均一而出现vaf偏倚的情况,进而导致计算出来的样本内所有smn1的外显子的拷贝数都大于2或都小于2的情况。为解决这一问题,本发明采用拷贝数2与smn1所有计算出来的拷...
Using gene dosage analysis, we determined the copy numbers of and in the general population as well as in SMA patients and carriers. Increased copy number is associated with decreased copy number in the general population; that is, copy number was decreased to one or zero copies in 11 of ...
本发明基于多重pcr高通量测序的panel数据,开发了一种分析smn1和smn2拷贝数变异的分析方法,可在cnv(copy number variations,拷贝数目变异)检测流程中增加对同源区域的检测,辅助对smn1和smn2基因拷贝数检测结果的判读,可稳定以及准确的检测smn1和smn2基因上拷贝数变化。 [0007] 为达到此发明目的,本发明采用以下技术方案...
SMN2基因拷贝数增加与SMA 表型严重程度呈负相关。关键词脊肌萎缩症；SMN1基因；SMN2基因；拷贝数变异Copy number variation of SMN1and SMN2genes in spinal muscular atrophy and analysis of its clinical significance WANG Ji 1，3，AN Yu 2，3，ZHOU Shui-zhen 1，WANG Yi 1，LIU Ren-chao 2（1Department...
A similar approach has been shown to distinguish copy number changes between the 2 highly homologous genes, SMN1 and SMN2 (Bio-Rad). Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof...
Using gene dosage analysis, we determined the copy numbers of and in the general population as well as in SMA patients and carriers. Increased copy number is associated with decreased copy number in the general population; that is, copy number was decreased to one or zero copies in 11 of ...
SMNCopyNumberCaller is a tool to call the copy number of full-length SMN1, full-length SMN2, as well as SMN2Δ7–8 (SMN2 with a deletion of Exon7-8) from a whole-genome sequencing (WGS) BAM file. This caller works with standard WGS sequencing depth (>=30X), and is insensitive ...
Copy number SMN1 CN=2 SMN2 CN=2 Definition SMN1 Normal SMN2 Normal MLPA Result Graph Product Information Intended Use Research Use Only Unit Size 1ug Concentration Download for COA Purity Download for COA DNA electrophoresis Download for COA Sanger sequencing Downloa...
The severe type (SMA I) always begins before six months. TheSMN1(survival motor neuron) gene on chromosome 5q12.2–q13.3 is the primary SMA disease-causing gene (Prior and Russman, 2003). Normal individuals have both the SMN1 gene and the SMN2 gene, an almost identical copy of the SMN1...