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

Identification of de novo variants from parent-proband duos via long-read sequencing

利用长读长测序技术从父母-先证者配对样本中鉴定新生变异。

Boukas, Leandros; Délot, Emmanuèle C; Pitsava, Georgia; Lambert, Christine; Fanslow, Cairbre; Baybayan, Primo; Belhadj, Sami; Losic, Bojan; Harting, John; Bluske, Krista; LoTempio, Jonathan; Al-Kouatly, Huda B; Karam, Rachid; Rowell, William J; Xiao, Changrui; Vilain, Eric; Berger, Seth I

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 #

Improving Parkinson's Disease Care through Systematic Screening for Depression

通过系统性抑郁症筛查改善帕金森病护理

Marras, Connie; Meyer, Zachary; Liu, Hongliang; Luo, Sheng; Mantri, Sneha; Allen, Allison; Baybayan, Sydney; Beck, James C; Brown, Amy E; Cheung, Francis; Dahodwala, Nabila; Davis, Thomas L; Engeland, Megan; Fearon, Conor; Jones, Nicole; Mills, Kelly; Miyasaki, Janis M; Naito, Anna; Neault, Marilyn; Nelson, Eugene C; Onyinanya, Ebubechukwu; Ropa, Carlos; Weintraub, Daniel

Comprehensive de novo mutation discovery with HiFi long-read sequencing

利用HiFi长读长测序进行全面的新生突变发现

Kucuk, Erdi; van der Sanden, Bart P G H; O'Gorman, Luke; Kwint, Michael; Derks, Ronny; Wenger, Aaron M; Lambert, Christine; Chakraborty, Shreyasee; Baybayan, Primo; Rowell, William J; Brunner, Han G; Vissers, Lisenka E L M; Hoischen, Alexander; Gilissen, Christian

Deep brain stimulation effect on anterior pallidum reduces motor impulsivity in Parkinson's disease

深部脑刺激对苍白球前部的影响可降低帕金森病患者的运动冲动性

Moussawi, Khaled; Kim, Min Jae; Baybayan, Sydney; Wood, Myles; Mills, Kelly A

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

在临床环境中应用长读长测序来提高诊断率

Sanford Kobayashi, Erica; Batalov, Serge; Wenger, Aaron M; Lambert, Christine; Dhillon, Harsharan; Hall, Richard J; Baybayan, Primo; Ding, Yan; Rego, Seema; Wigby, Kristen; Friedman, Jennifer; Hobbs, Charlotte; Bainbridge, Matthew N

Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery

NUDT15长读长HiFi测序:全基因单倍型分型和药物基因组学等位基因发现

Scott, Erick R; Yang, Yao; Botton, Mariana R; Seki, Yoshinori; Hoshitsuki, Keito; Harting, John; Baybayan, Primo; Cody, Neal; Nicoletti, Paola; Moriyama, Takaya; Chakraborty, Shreyasee; Yang, Jun J; Edelmann, Lisa; Schadt, Eric E; Korlach, Jonas; Scott, Stuart A

Long-read trio sequencing of individuals with unsolved intellectual disability

对未解决的智力障碍患者进行长读三重测序

Marc Pauper #, Erdi Kucuk #, Aaron M Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel R Nelen, Ronny Derks, Han G Brunner, Alexander Hoischen #, Lisenka E L M Vissers #, Christian Gilissen #

Variant phasing and haplotypic expression from long-read sequencing in maize

玉米长读测序的变异定相和单倍型表达

Bo Wang, Elizabeth Tseng, Primo Baybayan, Kevin Eng, Michael Regulski, Yinping Jiao, Liya Wang, Andrew Olson, Kapeel Chougule, Peter Van Buren, Doreen Ware