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

FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation

FAVOR 2.0:一个重新设计的在线变异功能注释资源,用于解释基因组变异

Zhou, Hufeng; Verma, Vineet; Li, Xihao; Li, Zilin; Shedd, Nicole; Li, Thomas Cheng; Yang, Haoyu; Zhang, Alvin; Borsari, Beatrice; Buyske, Steven; Gerstein, Mark; Matise, Tara; Zody, Michael C; Neale, Benjamin; Weng, Zhiping; Sunyaev, Shamil R; Lin, Xihong

Luticola edaphica sp. nov. (Diadesmidaceae, Naviculales) from the Soil of the Russian Far East (Primorsky Territory, Russia)

来自俄罗斯远东地区(俄罗斯滨海边疆区)土壤的 Luticola edaphica sp. nov.(双鞭藻科,舟形藻目)

Bagmet, Veronika B; Nikulin, Arthur Yu; Nikulin, Vyacheslav Yu; Abdullin, Shamil R

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes

高胆固醇血症基因的遗传关联与转录丰度之间缺乏调控

Hakim, Aaron; Connally, Noah J; Schnitzler, Gavin R; Cho, Michael H; Jiang, Z Gordon; Sunyaev, Shamil R; Gupta, Rajat M

NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease

NERINE 揭示了跨多个表型的基因网络中的罕见变异关联,并暗示 SNCA-PRL-LRRK2 子网络与帕金森病有关

Sumaiya Nazeen, Xinyuan Wang, Autumn Morrow, Ronya Strom, Elizabeth Ethier, Dylan Ritter, Alexander Henderson, Jalwa Afroz, Nathan O Stitziel, Rajat M Gupta, Kelvin Luk, Lorenz Studer, Vikram Khurana, Shamil R Sunyaev

Segregating DNA lesions point to high selective advantage of tumor initiating cells

分离的DNA损伤表明肿瘤起始细胞具有高度选择优势。

Seplyarskiy, Vladimir; Shady, Maha; Andrianova, Maria A; Chapman, Michael Spencer; Van Allen, Eliezer M; Sunyaev, Shamil R

Learning Patient Similarity from Genomics for Precision Oncology

利用基因组学学习患者相似性以实现精准肿瘤学

Shady, Maha; Reardon, Brendan; Jiang, Sharon; Pimenta, Erica; O'Meara, Tess; Park, Jihye; Kehl, Kenneth L; Elmarakeby, Haitham A; Sunyaev, Shamil R; Van Allen, Eliezer M

Quantifying constraint in the human mitochondrial genome

量化人类线粒体基因组的约束

Lake, Nicole J; Ma, Kaiyue; Liu, Wei; Battle, Stephanie L; Laricchia, Kristen M; Tiao, Grace; Puiu, Daniela; Ng, Kenneth K; Cohen, Justin; Compton, Alison G; Cowie, Shannon; Christodoulou, John; Thorburn, David R; Zhao, Hongyu; Arking, Dan E; Sunyaev, Shamil R; Lek, Monkol

Genetic mapping across autoimmune diseases reveals shared associations and mechanisms

针对自身免疫性疾病的基因定位分析揭示了共同的关联和机制。

Lincoln, Matthew R; Connally, Noah; Axisa, Pierre-Paul; Gasperi, Christiane; Mitrovic, Mitja; van Heel, David; Wijmenga, Cisca; Withoff, Sebo; Jonkers, Iris H; Padyukov, Leonid; Rich, Stephen S; Graham, Robert R; Gaffney, Patrick M; Langefeld, Carl D; Vyse, Timothy J; Hafler, David A; Chun, Sung; Sunyaev, Shamil R; Cotsapas, Chris