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

The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes

血液基因表达和剪接的遗传决定因素对分子表型和健康结果的影响

Tokolyi, Alex; Persyn, Elodie; Nath, Artika P; Burnham, Katie L; Marten, Jonathan; Vanderstichele, Thomas; Tardaguila, Manuel; Stacey, David; Farr, Ben; Iyer, Vivek; Jiang, Xilin; Lambert, Samuel A; Noell, Guillaume; Quail, Michael A; Rajan, Diana; Ritchie, Scott C; Sun, Benjamin B; Thurston, Scott A J; Xu, Yu; Whelan, Christopher D; Runz, Heiko; Petrovski, Slavé; Gaffney, Daniel J; Roberts, David J; Di Angelantonio, Emanuele; Peters, James E; Soranzo, Nicole; Danesh, John; Butterworth, Adam S; Inouye, Michael; Davenport, Emma E; Paul, Dirk S

Author Correction: Dissection of artifactual and confounding glial signatures by single-cell sequencing of mouse and human brain

作者更正:通过对小鼠和人脑进行单细胞测序来剖析人为和混杂的神经胶质细胞特征

Marsh, Samuel E; Walker, Alec J; Kamath, Tushar; Dissing-Olesen, Lasse; Hammond, Timothy R; de Soysa, T Yvanka; Young, Adam M H; Murphy, Sarah; Abdulraouf, Abdulraouf; Nadaf, Naeem; Dufort, Connor; Walker, Alicia C; Lucca, Liliana E; Kozareva, Velina; Vanderburg, Charles; Hong, Soyon; Bulstrode, Harry; Hutchinson, Peter J; Gaffney, Daniel J; Hafler, David A; Franklin, Robin J M; Macosko, Evan Z; Stevens, Beth

Gene expression QTL mapping in stimulated iPSC-derived macrophages provides insights into common complex diseases

利用刺激诱导多能干细胞衍生的巨噬细胞进行基因表达数量性状位点(QTL)定位,可为常见复杂疾病的研究提供新的见解。

Panousis, Nikolaos I; El Garwany, Omar; Knights, Andrew; Rop, Jesse Cheruiyot; Kumasaka, Natsuhiko; Imaz, Maria; Boquete Vilarino, Lorena; Tsingene, Anthi; Tokolyi, Alex; Barnett, Alice; Gomez, Celine; Anderson, Carl A; Gaffney, Daniel J

Splicing QTL mapping in stimulated macrophages associates low-usage splice junctions with immune-mediated disease risk.

在受刺激的巨噬细胞中进行剪接 QTL 定位,发现低使用率的剪接连接与免疫介导的疾病风险相关

El Garwany Omar, Panousis Nikolaos I, Knights Andrew, Kumasaka Natsuhiko, Imaz Maria, Vilarino Lorena Boquete, Tsingene Anthi, Tokolyi Alex, Martin Cristina Cotobal, Alegbe Tobi, Krzak Monika, Raine Tim, Barnett Alice, Gomez Celine, Gaffney Daniel J, Anderson Carl A

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

全基因组荟萃分析、精细定位和整合优先排序揭示了新的阿尔茨海默病风险基因

Schwartzentruber, Jeremy; Cooper, Sarah; Liu, Jimmy Z; Barrio-Hernandez, Inigo; Bello, Erica; Kumasaka, Natsuhiko; Young, Adam M H; Franklin, Robin J M; Johnson, Toby; Estrada, Karol; Gaffney, Daniel J; Beltrao, Pedro; Bassett, Andrew

Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

TSPAN8 变异体的特征与人类代谢调控和疾病相关

De, Tisham; Goncalves, Angela; Speed, Doug; Froguel, Philippe; Gaffney, Daniel J; Johnson, Michael R; Jarvelin, Marjo-Riitta; Coin, Lachlan Jm

Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes.

Souporcell:无需参考基因型即可按基因型对单细胞 RNA-seq 数据进行稳健聚类

Heaton Haynes, Talman Arthur M, Knights Andrew, Imaz Maria, Gaffney Daniel J, Durbin Richard, Hemberg Martin, Lawniczak Mara K N

High-resolution genetic mapping of putative causal interactions between regions of open chromatin

高分辨率遗传图谱构建开放染色质区域间假定因果相互作用

Kumasaka, Natsuhiko; Knights, Andrew J; Gaffney, Daniel J

Genetic effects on promoter usage are highly context-specific and contribute to complex traits

启动子利用的遗传效应具有高度情境特异性,并导致复杂性状的形成

Alasoo, Kaur; Rodrigues, Julia; Danesh, John; Freitag, Daniel F; Paul, Dirk S; Gaffney, Daniel J

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

全基因组关联研究发现原发性硬化性胆管炎的新风险位点,并量化了其与炎症性肠病的遗传关系

Ji, Sun-Gou; Juran, Brian D; Mucha, Sören; Folseraas, Trine; Jostins, Luke; Melum, Espen; Kumasaka, Natsuhiko; Atkinson, Elizabeth J; Schlicht, Erik M; Liu, Jimmy Z; Shah, Tejas; Gutierrez-Achury, Javier; Boberg, Kirsten M; Bergquist, Annika; Vermeire, Severine; Eksteen, Bertus; Durie, Peter R; Farkkila, Martti; Müller, Tobias; Schramm, Christoph; Sterneck, Martina; Weismüller, Tobias J; Gotthardt, Daniel N; Ellinghaus, David; Braun, Felix; Teufel, Andreas; Laudes, Mattias; Lieb, Wolfgang; Jacobs, Gunnar; Beuers, Ulrich; Weersma, Rinse K; Wijmenga, Cisca; Marschall, Hanns-Ulrich; Milkiewicz, Piotr; Pares, Albert; Kontula, Kimmo; Chazouillères, Olivier; Invernizzi, Pietro; Goode, Elizabeth; Spiess, Kelly; Moore, Carmel; Sambrook, Jennifer; Ouwehand, Willem H; Roberts, David J; Danesh, John; Floreani, Annarosa; Gulamhusein, Aliya F; Eaton, John E; Schreiber, Stefan; Coltescu, Catalina; Bowlus, Christopher L; Luketic, Velimir A; Odin, Joseph A; Chopra, Kapil B; Kowdley, Kris V; Chalasani, Naga; Manns, Michael P; Srivastava, Brijesh; Mells, George; Sandford, Richard N; Alexander, Graeme; Gaffney, Daniel J; Chapman, Roger W; Hirschfield, Gideon M; de Andrade, Mariza; Rushbrook, Simon M; Franke, Andre; Karlsen, Tom H; Lazaridis, Konstantinos N; Anderson, Carl A