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

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders

长读长基因组测序可提高儿童神经系统疾病的诊断率。

Ek, Marlene; Kvarnung, Malin; Ten Berk de Boer, Esmee; La Fleur, Linnéa; Ljöstad, Lena; Lyander, Anna; Faergeman, Søren Lejsted; Drue, Simon Opstrup; Thonberg, Håkan; Nordgren, Ann; Soller, Maria Johansson; Wirta, Valtteri; Eisfeldt, Jesper; Lindstrand, Anna

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

CYP21A2相关先天性肾上腺皮质增生症的基因诊断:自适应采样长读长测序是一种准确且可扩展的解决方案

Lildballe, Dorte Launholt; Huno, Morten Reiffenstein; Ridder, Lukas Ochsner Reynaud; Balle, Camilla Mains; Drue, Simon Opstrup; Berglund, Agnethe; Dunø, Morten; Bak, Ebbe Norskov; Viuff, Mette Hansen; Rasmussen, Laura Skak; Gravholt, Claus Højbjerg

CRISPR activation to characterize splice-altering variants in easily accessible cells

利用 CRISPR 激活来鉴定易接近细胞中的剪接变异体

Thorkild Terkelsen, Nanna Steengaard Mikkelsen, Ebbe Norskov Bak, Johan Vad-Nielsen, Jenny Blechingberg, Simone Weiss, Simon Opstrup Drue, Henning Andersen, Brage Storstein Andresen, Rasmus O Bak, Uffe Birk Jensen