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1、靶標(biāo)大小：60 Mb；
2、覆蓋數(shù)據(jù)庫(kù)：Refseq，CCDS，GENCODE，HGMD_cds，OMIM_cds；
3、采用雙鏈 RNA 探針捕獲：更少的測(cè)序量實(shí)現(xiàn)更大的覆蓋率和均一性；
4、樣本需求：10 ng-200 ng，可適用于 FFPE 樣本。
▲圖 1 全外捕獲實(shí)驗(yàn)流程圖
通過實(shí)測(cè)數(shù)據(jù)分析，該人全外顯子定制捕獲平臺(tái)在比對(duì)率、捕獲率、覆蓋度、均一性等方面均有良好表現(xiàn)，綜合性能更佳。
▲圖 2 各捕獲平臺(tái)的數(shù)據(jù)情況。藍(lán)色表示該定制平臺(tái)。
全外顯子測(cè)序作為伯豪生物 DNA 產(chǎn)品線的服務(wù)，合作客戶的研究涵蓋腫瘤、遺傳病、復(fù)雜疾病等各個(gè)領(lǐng)域，應(yīng)用文獻(xiàn)在 Nat Genet、Leukemia、Genome Med、Hepatology 等高水平期刊發(fā)表。 伯豪生物 DNA 產(chǎn)品線整合了測(cè)序和芯片平臺(tái)，為客戶提供從基因組測(cè)序、外顯子組測(cè)序、目標(biāo)區(qū)段捕獲測(cè)序、SNP 芯片和 CNV 芯片等高通量篩選，個(gè)性化的生物信息分析，到 Fluidigm、MassARRAY、多重 PCR、qPCR、Sanger 測(cè)序等中低通量驗(yàn)證的整體一站式服務(wù)。如下是部分全外應(yīng)用文獻(xiàn)：
| 序號(hào) | 文章名稱 | 伯豪生物科研服務(wù) | 樣本類型 | 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 | 細(xì)胞 | 5.314 |
| 5 | Integrated Omics of Metastatic Colorectal Cancer | Illumina RNA Sequencing whole exome sequencing | 組織 | 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 | 組織 | 4.174 |
| 10 | …… |
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