目標(biāo)區(qū)域測序是針對研究者感興趣的基因組序列,通過定制目標(biāo)區(qū)域的探針,與基因組進(jìn)行雜交, 將目標(biāo)區(qū)域DNA富集后進(jìn)行高通量測序。目標(biāo)區(qū)域測序通過對大量樣本進(jìn)行研究,有助于發(fā)現(xiàn)和驗(yàn)證疾病相關(guān)位點(diǎn)或候選基因。
技術(shù)特點(diǎn)
針對目的基因組區(qū)域進(jìn)行遺傳變異位點(diǎn)檢測,更經(jīng)濟(jì),更高通量,縮短研究周期;對特定區(qū)域深入研究,較少數(shù)據(jù)量就可以獲得更深的覆蓋度和更高的數(shù)據(jù)準(zhǔn)確性。目標(biāo)區(qū)域測序尤其適用于疾病的大樣本量分析。
在標(biāo)準(zhǔn)分析之外,派森諾生物提供多種個性化分析項(xiàng)目。
測序深度
深度推薦至少500X,深度越高所發(fā)現(xiàn)的變異信息多。
相關(guān)研究
病 種 | 期 刊 | 影響因子 | 時 間 |
擴(kuò)張型心肌病1 | Science Translational Medicine | 15.843 | 2016 |
乳腺癌2 | New England Journal of Medicine | 55.873 | 2015 |
AML3 | New England Journal of Medicine | 55.873 | 2016 |
實(shí)體瘤4 | Clinical Chemistry | 7.911 | 2015 |
慢性淋巴細(xì)胞白血病5 | Blood | 10.452 | 2015 |
1、Roberts A M, Ware J S, Herman D S, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease[J]. Science Translational Medicine, 2015, 7(270):270ra6.
2、Easton D F, Pharoah P D, Antoniou A C, et al. Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk[J]. New England Journal of Medicine, 2015, 372(23):2243-57.
3、Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic Classification and Prognosis in Acute Myeloid Leukemia[J]. N Engl J Med, 2016, 374(23):2209-2221.
4、Chen K, Mericbernstam F, Zhao H, et al. Clinical Actionability Enhanced through Deep Targeted Sequencing of Solid Tumors.[J]. Clinical Chemistry, 2015, 61(3):544.
5、Guièze R, Robbe P, Clifford R, et al. Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL[J]. Blood, 2015, 126(18):2110.