 |
1、靶标大小：60 Mb；
2、覆盖数据库：Refseq，CCDS，GENCODE，HGMD_cds，OMIM_cds；
3、采用双链 RNA 探针捕获：更少的测序量实现更大的覆盖率和均一性；
4、样本需求：10 ng-200 ng，可适用于 FFPE 样本。
▲图 1 全外捕获实验流程图
通过实测数据分析，该人全外显子定制捕获平台在比对率、捕获率、覆盖度、均一性等方面均有良好表现，综合性能更佳。
▲图 2 各捕获平台的数据情况。蓝色表示该定制平台。
全外显子测序作为QY球友会生物 DNA 产品线的服务，合作客户的研究涵盖肿瘤、遗传病、复杂疾病等各个领域，应用文献在 Nat Genet、Leukemia、Genome Med、Hepatology 等高水平期刊发表。 QY球友会生物 DNA 产品线整合了测序和芯片平台，为客户提供从基因组测序、外显子组测序、目标区段捕获测序、SNP 芯片和 CNV 芯片等高通量筛选，个性化的生物信息分析，到 Fluidigm、MassARRAY、多重 PCR、qPCR、Sanger 测序等中低通量验证的整体一站式服务。如下是部分全外应用文献：
| 序号 | 文章名称 | QY球友会生物科研服务 | 样本类型 | IF |
| 1 | NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation | Whole-exome sequencing | 血液 | 3.976 |
| 2 | Effects of childhood trauma experience and BDNF Val66Met polymorphism on brain plasticity relate to emotion regulation | Whole-exome sequencing | 血液 | 3.352 |
| 3 | Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome | Whole-exome sequencing | 血液 | 3.55 |
| 4 | An HNSCC syngeneic mouse model for tumor immunology research and preclinical evaluation | Illumina RNA Sequencing whole exome sequencing | 细胞 | 5.314 |
| 5 | Integrated Omics of Metastatic Colorectal Cancer | Illumina RNA Sequencing whole exome sequencing | 组织 | 38.585 |
| 6 | SCN9A Epileptic Encephalopathy Mutations Display a Gain-of-function Phenotype and Distinct Sensitivity to Oxcarbazepine | whole-exome sequencing | 血液 | 5.271 |
| 7 | FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy | Illumina RNA Sequencing whole exome sequencing | 血液 | N/A |
| 8 | Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome | Illumina RNA Sequencing whole exome sequencing | 血液 | 3.55 |
| 9 | B lymphocytes expressing high levels of PD-L1 are key regulators of diabetes development in non-obese diabetic mice | Illumina RNA Sequencing whole exome sequencing | 组织 | 4.174 |
| 10 | …… |
-END-
