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

A Complete Genome for the Common Marmoset

普通狨猴的完整基因组

Hebbar, Prajna; Potapova, Tamara; Loucks, Hailey; Ray, Karina; Rodrigues, Murillo F; Ryabov, Fedor; Malukiewicz, Joanna; Yoo, DongAhn; de Lima, Leonardo; Haber, Annat; Kumar, Sonal; Banerjee, Swati; Borchers, Matthew; Garcia, Gage H; Gardner, Joshua; Hachem, Stephanie; Heath, Harrison; Ha, Seung Kwon; Mastoras, Mira; McNulty, Brandy; Menendez, Julian; Munson, Katherine M; Pal, Karol; Park, JungEun; Ploesch, Simon; Roos, Christian; Seligmann, William E; Shepelev, Valery; Spruce, Catrina; Violich, Ivo; Walter, Lutz; Makova, Kateryna D; Thathiah, Amantha; Rizzo, Stacey J Sukoff; Silva, Afonso C; Carter, Gregory W; Miga, Karen H; Eichler, Evan E; Conrad, Donald F; Gerton, Jennifer L; Alexandrov, Ivan; Paten, Benedict

Haplotype-resolved centromeric chromatin organization from a complete diploid human genome

从完整的二倍体人类基因组中获得的单倍型解析的着丝粒染色质组织结构

Xu, Yuan; Loucks, Hailey; Menendez, Julian; Ryabov, Fedor; Lucas, Julian K; Cechova, Monika; Morina, Luke; Xu, Emily; Dubocanin, Danilo; Chittenden, Cy; Asri, Mobin; Violich, Ivo; Ortiz, Christian; Gardner, Joshua M V; Hillaker, Todd; O'Rourke, Sara; McNulty, Brandy; Potapova, Tamara A; Mitchell, Matthew W; Schwartz, Jacob P; Straight, Aaron F; Gerton, Jennifer L; Timp, Winston; Alexandrov, Ivan A; Altemose, Nicolas; Miga, Karen H

Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils

帕金森病全血RNA分析中SNCA表达降低(校正中性粒细胞后)

Xu, Kayla Y; Violich, Ivo; Hutchins, Elizabeth; Alsop, Eric; Nalls, Mike A; Moore, Anni; Blauwendraat, Cornelis; Raphael Gibbs, J; Cookson, Mark R; Van Keuren-Jensen, Kendall; Craig, David W

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

推进长读长纳米孔基因组组装和精确变异检测,以用于罕见病检测

Shloka Negi ,Sarah L Stenton ,Seth I Berger ,Paolo Canigiula ,Brandy McNulty ,Ivo Violich ,Joshua Gardner ,Todd Hillaker ,Sara M O'Rourke ,Melanie C O'Leary ,Elizabeth Carbonell ,Christina Austin-Tse ,Gabrielle Lemire ,Jillian Serrano ,Brian Mangilog ,Grace VanNoy ,Mikhail Kolmogorov ,Eric Vilain ,Anne O'Donnell-Luria ,Emmanuèle Délot ,Karen H Miga ,Jean Monlong ,Benedict Paten

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

开发并广泛测序经广泛认可的“瓶中基因组”匹配的肿瘤-正常组织对

Jennifer H McDaniel ,Vaidehi Patel ,Nathan D Olson ,Hua-Jun He ,Zhiyong He ,Kenneth D Cole ,Alexander A Gooden ,Anthony Schmitt ,Kristin Sikkink ,Fritz J Sedlazeck ,Harsha Doddapaneni ,Shalini N Jhangiani ,Donna M Muzny ,Marie-Claude Gingras ,Heer Mehta ,Sairam Behera ,Luis F Paulin ,Alex R Hastie ,Hung-Chun Yu ,Victor Weigman ,Alison Rojas ,Katie Kennedy ,Jamie Remington ,Isai Salas-González ,Mitch Sudkamp ,Kelly Wiseman ,Bryan R Lajoie ,Shawn Levy ,Miten Jain ,Stuart Akeson ,Giuseppe Narzisi ,Zoe Steinsnyder ,Catherine Reeves ,Jennifer Shelton ,Sarah B Kingan ,Christine Lambert ,Primo Baybayan ,Aaron M Wenger ,Ian J McLaughlin ,Aaron Adamson ,Christopher Kingsley ,Melanie Wescott ,Young Kim ,Benedict Paten ,Jimin Park ,Ivo Violich ,Karen H Miga ,Joshua Gardner ,Brandy McNulty ,Gail L Rosen ,Rajiv McCoy ,Francesco Brundu ,Erfan Sayyari ,Konrad Scheffler ,Sean Truong ,Severine Catreux ,Lesley Chapman Hannah ,Doron Lipson ,Hila Benjamin ,Nika Iremadze ,Ilya Soifer ,Gat Krieger ,Stephen Eacker ,Mary Wood ,Erin Cross ,Greg Husar ,Stephen Gross ,Michael Vernich ,Mikhail Kolmogorov ,Tanveer Ahmad ,Ayse G Keskus ,Asher Bryant ,Francoise Thibaud-Nissen ,Jonathan Trow ,Jacqueline Proszynski ,Jeremy Wain Hirschberg ,Krista Ryon ,Christopher E Mason ,Mital S Bhakta ,J Zachary Sanborn ,Elizabeth M Munding ,Justin Wagner ,Chunlin Xiao # ,Andrew S Liss # ,Justin M Zook #

Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.

对多代家系进行全基因组测序,以扩展对遗传和表观遗传的研究。

Cechova Monika, Potapova Tamara A, Rechtsteiner Andreas, Hickey Glenn, Mari Rebecca Serra, Mastoras Mira, Menendez Julian, Poláková Nikol, Hebbar Prajna, Ryabov Fedor, Loucks Hailey, Groot Aljona, Pavlík Tomáš, Asri Mobin, Dong Shihua, Yan Stephanie M, Lucas Julian K, Solar Steven J, Borchers Matthew, Mattingly Mark, McKinney Sean, Krátká Marie, Mikhailova Catherine, Hanák Ondřej, Saha Sohinee Tiffany, Xu Emily, Antipov Dmitry, Koren Sergey, Eizenga Jordan M, McNulty Brandy, Gardner Joshua M V, Hillaker Todd, Violich Ivo, Markovic Christopher, Kruglyak Semyon, Levy Shawn, Wolf Trevor, Mitchell Matthew W, Scheinfeldt Laura, Cheng Haoyu, Alexandrov Ivan A, McCoy Rajiv C, Paten Benedict, Phillippy Adam M, Zook Justin M, Gerton Jennifer L, Fulton Robert S, Stitziel Nathan O, Wang Ting, Marschall Tobias, Greider Carol W, Miga Karen H

Decreased SNCA Expression in Whole-Blood RNA Analysis of Parkinson's Disease Adjusting for Lymphocytes

帕金森病全血RNA分析中SNCA表达降低(校正淋巴细胞后)

Xu, Kayla; Violich, Ivo; Hutchins, Elizabeth; Alsop, Eric; Nalls, Mike A; Blauwendraat, Cornelis; Gibbs, J Raphael; Cookson, Mark R; Moore, Anni; Van Keuren-Jensen, Kendall; Craig, David W

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism

帕金森病基础数据计划:实现从基因图谱到机制的高效转化

Elisangela Bressan ,Xylena Reed ,Vikas Bansal ,Elizabeth Hutchins ,Melanie M Cobb ,Michelle G Webb ,Eric Alsop ,Francis P Grenn ,Anastasia Illarionova ,Natalia Savytska ,Ivo Violich ,Stefanie Broeer ,Noémia Fernandes ,Ramiyapriya Sivakumar ,Alexandra Beilina ,Kimberley J Billingsley ,Joos Berghausen ,Caroline B Pantazis ,Vanessa Pitz ,Dhairya Patel ,Kensuke Daida ,Bessie Meechoovet ,Rebecca Reiman ,Amanda Courtright-Lim ,Amber Logemann ,Jerry Antone ,Mariya Barch ,Robert Kitchen ,Yan Li ,Clifton L Dalgard ,Dena G Hernandez ,Brooke E Hjelm ,Mike Nalls ,J Raphael Gibbs ,Steven Finkbeiner ,Mark R Cookson ,Kendall Van Keuren-Jensen ,David W Craig ,Andrew B Singleton ,Peter Heutink ,Cornelis Blauwendraat

Multi-modality machine learning predicting Parkinson's disease

多模态机器学习预测帕金森病

Makarious, Mary B; Leonard, Hampton L; Vitale, Dan; Iwaki, Hirotaka; Sargent, Lana; Dadu, Anant; Violich, Ivo; Hutchins, Elizabeth; Saffo, David; Bandres-Ciga, Sara; Kim, Jonggeol Jeff; Song, Yeajin; Maleknia, Melina; Bookman, Matt; Nojopranoto, Willy; Campbell, Roy H; Hashemi, Sayed Hadi; Botia, Juan A; Carter, John F; Craig, David W; Van Keuren-Jensen, Kendall; Morris, Huw R; Hardy, John A; Blauwendraat, Cornelis; Singleton, Andrew B; Faghri, Faraz; Nalls, Mike A