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

Uniparental disomy in a population of 32,067 clinical exome trios

在32,067个临床外显子组三联体人群中发现单亲二体性

Scuffins, Julie; Keller-Ramey, Jennifer; Dyer, Lindsay; Douglas, Ganka; Torene, Rebecca; Gainullin, Vladimir; Juusola, Jane; Meck, Jeanne; Retterer, Kyle

Mobile element insertion detection in 89,874 clinical exomes

在 89,874 个临床外显子组中检测移动元件插入

Torene, Rebecca I; Galens, Kevin; Liu, Shuxi; Arvai, Kevin; Borroto, Carlos; Scuffins, Julie; Zhang, Zhancheng; Friedman, Bethany; Sroka, Hana; Heeley, Jennifer; Beaver, Erin; Clarke, Lorne; Neil, Sarah; Walia, Jagdeep; Hull, Danna; Juusola, Jane; Retterer, Kyle