日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Haplotype-resolved genome sequencing of a Gujarati Indian individual

对一名古吉拉特邦印度人进行单倍型解析基因组测序

Kitzman, Jacob O; Mackenzie, Alexandra P; Adey, Andrew; Hiatt, Joseph B; Patwardhan, Rupali P; Sudmant, Peter H; Ng, Sarah B; Alkan, Can; Qiu, Ruolan; Eichler, Evan E; Shendure, Jay

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

散发性自闭症谱系障碍的外显子组测序可识别严重的新生突变

O'Roak, Brian J; Deriziotis, Pelagia; Lee, Choli; Vives, Laura; Schwartz, Jerrod J; Girirajan, Santhosh; Karakoc, Emre; Mackenzie, Alexandra P; Ng, Sarah B; Baker, Carl; Rieder, Mark J; Nickerson, Deborah A; Bernier, Raphael; Fisher, Simon E; Shendure, Jay; Eichler, Evan E

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

外显子组测序可识别晚期和致命性前列腺癌中一系列的突变频率。

Kumar, Akash; White, Thomas A; MacKenzie, Alexandra P; Clegg, Nigel; Lee, Choli; Dumpit, Ruth F; Coleman, Ilsa; Ng, Sarah B; Salipante, Stephen J; Rieder, Mark J; Nickerson, Deborah A; Corey, Eva; Lange, Paul H; Morrissey, Colm; Vessella, Robert L; Nelson, Peter S; Shendure, Jay

Differentiation and fiber type-specific activity of a muscle creatine kinase intronic enhancer.

肌肉肌酸激酶内含子增强子的分化和纤维类型特异性活性

Tai Phillip Wl, Fisher-Aylor Katherine I, Himeda Charis L, Smith Catherine L, Mackenzie Alexandra P, Helterline Deri L, Angello John C, Welikson Robert E, Wold Barbara J, Hauschka Stephen D