目標(biao)區(qu)域測序是針對研(yan)究者感興趣的基(ji)因組序列(lie),通過(guo)定制(zhi)目標(biao)區(qu)域的探針,與基(ji)因組進行雜(za)交, 將目(mu)標區域DNA富集后進(jin)(jin)行(xing)高通(tong)量測序。目(mu)標區(qu)域測序通(tong)過(guo)對大量樣本進(jin)(jin)行(xing)研究,有助于發現和驗(yan)證疾病相關位點(dian)或候選(xuan)基因。
技術特點
針(zhen)對目的(de)基(ji)因組區域進行遺傳(chuan)變異位點檢測,更經濟,更高(gao)(gao)通量(liang)(liang),縮短研(yan)究(jiu)周(zhou)期;對特定(ding)區域深入(ru)研(yan)究(jiu),較少(shao)數(shu)據量(liang)(liang)就可以獲得更深的(de)覆蓋(gai)度(du)和更高(gao)(gao)的(de)數(shu)據準確性。目標(biao)區域測序尤其適用于疾(ji)病的(de)大樣本量(liang)(liang)分(fen)析。
在標準(zhun)分(fen)析之外(wai),派森諾生物(wu)提(ti)供多種個性化分(fen)析項目(mu)。
測序深度
深度推薦至少500X,深度越高所發現的變異信息多。
相關研究
病 種 | 期 刊 | 影響因子(zi) | 時 間 |
擴張型心肌病1 | Science Translational Medicine | 15.843 | 2016 |
乳腺(xian)癌(ai)2 | New England Journal of Medicine | 55.873 | 2015 |
AML3 | New England Journal of Medicine | 55.873 | 2016 |
實體瘤4 | Clinical Chemistry | 7.911 | 2015 |
慢性淋巴細胞白血病(bing)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.