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

Identifying Inheritance Patterns of Allelic Imbalance, using Integrative Modeling and Bayesian Inference

利用整合建模和贝叶斯推断识别等位基因失衡的遗传模式

Hoyt, Stephanie H; Reddy, Timothy E; Gordân, Raluca; Allen, Andrew S; Majoros, William H

Modeling gene regulatory perturbations via deep learning from high-throughput reporter assays

利用高通量报告基因检测,通过深度学习模拟基因调控扰动

Venukuttan, Revathy; Doty, Richard; Thomson, Alexander; Chen, Yutian; Li, Boyao; Duan, Yuncheng; Barrera, Alejandro; Dura, Katherine; Ko, Kuei-Yueh; Lapp, Hilmar; Reddy, Timothy E; Allen, Andrew S; Majoros, William H

Structured Pooling Improves Detection of Rare Regulatory Mutations in Population-Scale Reporter Assays

结构化混合方法可提高群体规模报告基因检测中罕见调控突变的检出率

Dura, Katherine; Siklenka, Keith; Strause, Kari; Morrow, Shauna; Zhang, Chuangchuang; Barrera, Alejandro; Allen, Andrew S; Reddy, Timothy E; Majoros, William H

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

细胞建模和拯救一种新的非编码遗传性糖原贮积症病因 IX。

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Mohan Shruthi, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Mgl2+ cDC2s coordinate fungal allergic airway type 2, but not type 17, inflammation in mice

Mgl2+ cDC2s 可协调小鼠 2 型真菌过敏性气道炎症,但不协调 17 型真菌过敏性气道炎症

Peter C Cook, Sheila L Brown, Emma L Houlder, Julio Furlong-Silva, Daniel P Conn, Stefano A P Colombo, Syed Baker, Freya R Svedberg, Gareth Howell, Margherita Bertuzzi, Louis Boon, Joanne E Konkel, Christopher R Thornton, Judith E Allen, Andrew S MacDonald

Characterization and bioinformatic filtering of ambient gRNAs in single-cell CRISPR screens using CLEANSER

利用 CLEANSER 对单细胞 CRISPR 筛选中的环境 gRNA 进行表征和生物信息学过滤

Liu, Siyan; Hamilton, Marisa C; Cowart, Thomas; Barrera, Alejandro; Bounds, Lexi R; Nelson, Alexander C; Dornbaum, Sophie F; Riley, Julia W; Doty, Richard W; Allen, Andrew S; Crawford, Gregory E; Majoros, William H; Gersbach, Charles A

Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

启动子缺失导致原发性纤毛运动障碍病例中等位基因特异性表达,该病例的遗传病因尚未明确

Beaman, M Makenzie; Yin, Weining; Smith, Amanda J; Sears, Patrick R; Leigh, Margaret W; Ferkol, Thomas W; Kearney, Brendan; Olivier, Kenneth N; Kimple, Adam J; Clarke, Shannon; Huggins, Erin; Nading, Erica; Jung, Seung-Hye; Iyengar, Apoorva K; Zou, Xue; Dang, Hong; Barrera, Alejandro; Majoros, William H; Rehder, Catherine W; Reddy, Timothy E; Ostrowski, Lawrence E; Allen, Andrew S; Knowles, Michael R; Zariwala, Maimoona A; Crawford, Gregory E

Bayesian estimation of allele-specific expression in the presence of phasing uncertainty

在存在相位不确定性的情况下,对等位基因特异性表达进行贝叶斯估计

Zou, Xue; Gomez, Zachary W; Reddy, Timothy E; Allen, Andrew S; Majoros, William H

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

糖原贮积症新型非编码遗传病因的细胞建模与拯救 IX.

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study.

复发性多软骨炎中极其罕见的基因变异:全外显子组测序研究

Luo Yiming, Ferrada Marcela A, Sikora Keith A, Rankin Cameron, Alessi Hugh D, Kastner Daniel L, Deng Zuoming, Zhang Mengqi, Merkel Peter A, Kraus Virginia B, Allen Andrew S, Grayson Peter C