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

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graphs

Lancet2:利用联合多样本局部组装图改进和加速体细胞变异检测

Musunuri, Rajeeva Lochan; Zhu, Bryan; Clarke, Wayne E; Hooper, William; Chu, Timothy; Shelton, Jennifer; Corvelo, André; Chung, Dickson; Sundar, Shreya; Novak, Adam M; Paten, Benedict; Zody, Michael C; Robine, Nicolas; Narzisi, Giuseppe

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

利用高覆盖率纳米孔测序技术对千人基因组计划的样本进行测序,以构建人类遗传变异的综合目录。

Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda P G; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachary B; Storz, Sophie H R; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; McCombie, William Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin, Richard N Jr; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

利用纳米孔测序技术对千人基因组计划样本进行测序,以构建人类遗传变异的综合目录

Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda Pg; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachery; Storz, Sophie Hr; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; McCombie, W Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin, Richard N Jr; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E

Curated variation benchmarks for challenging medically relevant autosomal genes

针对具有挑战性的医学相关常染色体基因的精选变异基准

Wagner, Justin; Olson, Nathan D; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M; Rowell, William J; Khan, Ziad M; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E; Jáspez, David; Lorenzo-Salazar, José M; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E; Lee, Joyce; Mason, Christopher E; Lincoln, Stephen E; Miga, Karen H; Ebbert, Mark T W; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M; Sedlazeck, Fritz J

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

基于泛基因组的基因组推断能够对多种变异类型进行高效、准确的基因分型。

Ebler, Jana; Ebert, Peter; Clarke, Wayne E; Rausch, Tobias; Audano, Peter A; Houwaart, Torsten; Mao, Yafei; Korbel, Jan O; Eichler, Evan E; Zody, Michael C; Dilthey, Alexander T; Marschall, Tobias

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

对来自 NHLBI TOPMed 项目的 53,831 个不同基因组进行测序

Taliun, Daniel; Harris, Daniel N; Kessler, Michael D; Carlson, Jedidiah; Szpiech, Zachary A; Torres, Raul; Taliun, Sarah A Gagliano; Corvelo, André; Gogarten, Stephanie M; Kang, Hyun Min; Pitsillides, Achilleas N; LeFaive, Jonathon; Lee, Seung-Been; Tian, Xiaowen; Browning, Brian L; Das, Sayantan; Emde, Anne-Katrin; Clarke, Wayne E; Loesch, Douglas P; Shetty, Amol C; Blackwell, Thomas W; Smith, Albert V; Wong, Quenna; Liu, Xiaoming; Conomos, Matthew P; Bobo, Dean M; Aguet, François; Albert, Christine; Alonso, Alvaro; Ardlie, Kristin G; Arking, Dan E; Aslibekyan, Stella; Auer, Paul L; Barnard, John; Barr, R Graham; Barwick, Lucas; Becker, Lewis C; Beer, Rebecca L; Benjamin, Emelia J; Bielak, Lawrence F; Blangero, John; Boehnke, Michael; Bowden, Donald W; Brody, Jennifer A; Burchard, Esteban G; Cade, Brian E; Casella, James F; Chalazan, Brandon; Chasman, Daniel I; Chen, Yii-Der Ida; Cho, Michael H; Choi, Seung Hoan; Chung, Mina K; Clish, Clary B; Correa, Adolfo; Curran, Joanne E; Custer, Brian; Darbar, Dawood; Daya, Michelle; de Andrade, Mariza; DeMeo, Dawn L; Dutcher, Susan K; Ellinor, Patrick T; Emery, Leslie S; Eng, Celeste; Fatkin, Diane; Fingerlin, Tasha; Forer, Lukas; Fornage, Myriam; Franceschini, Nora; Fuchsberger, Christian; Fullerton, Stephanie M; Germer, Soren; Gladwin, Mark T; Gottlieb, Daniel J; Guo, Xiuqing; Hall, Michael E; He, Jiang; Heard-Costa, Nancy L; Heckbert, Susan R; Irvin, Marguerite R; Johnsen, Jill M; Johnson, Andrew D; Kaplan, Robert; Kardia, Sharon L R; Kelly, Tanika; Kelly, Shannon; Kenny, Eimear E; Kiel, Douglas P; Klemmer, Robert; Konkle, Barbara A; Kooperberg, Charles; Köttgen, Anna; Lange, Leslie A; Lasky-Su, Jessica; Levy, Daniel; Lin, Xihong; Lin, Keng-Han; Liu, Chunyu; Loos, Ruth J F; Garman, Lori; Gerszten, Robert; Lubitz, Steven A; Lunetta, Kathryn L; Mak, Angel C Y; Manichaikul, Ani; Manning, Alisa K; Mathias, Rasika A; McManus, David D; McGarvey, Stephen T; Meigs, James B; Meyers, Deborah A; Mikulla, Julie L; Minear, Mollie A; Mitchell, Braxton D; Mohanty, Sanghamitra; Montasser, May E; Montgomery, Courtney; Morrison, Alanna C; Murabito, Joanne M; Natale, Andrea; Natarajan, Pradeep; Nelson, Sarah C; North, Kari E; O'Connell, Jeffrey R; Palmer, Nicholette D; Pankratz, Nathan; Peloso, Gina M; Peyser, Patricia A; Pleiness, Jacob; Post, Wendy S; Psaty, Bruce M; Rao, D C; Redline, Susan; Reiner, Alexander P; Roden, Dan; Rotter, Jerome I; Ruczinski, Ingo; Sarnowski, Chloé; Schoenherr, Sebastian; Schwartz, David A; Seo, Jeong-Sun; Seshadri, Sudha; Sheehan, Vivien A; Sheu, Wayne H; Shoemaker, M Benjamin; Smith, Nicholas L; Smith, Jennifer A; Sotoodehnia, Nona; Stilp, Adrienne M; Tang, Weihong; Taylor, Kent D; Telen, Marilyn; Thornton, Timothy A; Tracy, Russell P; Van Den Berg, David J; Vasan, Ramachandran S; Viaud-Martinez, Karine A; Vrieze, Scott; Weeks, Daniel E; Weir, Bruce S; Weiss, Scott T; Weng, Lu-Chen; Willer, Cristen J; Zhang, Yingze; Zhao, Xutong; Arnett, Donna K; Ashley-Koch, Allison E; Barnes, Kathleen C; Boerwinkle, Eric; Gabriel, Stacey; Gibbs, Richard; Rice, Kenneth M; Rich, Stephen S; Silverman, Edwin K; Qasba, Pankaj; Gan, Weiniu; Papanicolaou, George J; Nickerson, Deborah A; Browning, Sharon R; Zody, Michael C; Zöllner, Sebastian; Wilson, James G; Cupples, L Adrienne; Laurie, Cathy C; Jaquish, Cashell E; Hernandez, Ryan D; O'Connor, Timothy D; Abecasis, Gonçalo R

Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study.

ABRF 下一代测序研究中 DNA 测序平台的性能评估

Foox Jonathan, Tighe Scott W, Nicolet Charles M, Zook Justin M, Byrska-Bishop Marta, Clarke Wayne E, Khayat Michael M, Mahmoud Medhat, Laaguiby Phoebe K, Herbert Zachary T, Warner Derek, Grills George S, Jen Jin, Levy Shawn, Xiang Jenny, Alonso Alicia, Zhao Xia, Zhang Wenwei, Teng Fei, Zhao Yonggang, Lu Haorong, Schroth Gary P, Narzisi Giuseppe, Farmerie William, Sedlazeck Fritz J, Baldwin Don A, Mason Christopher E

Narrow genetic base shapes population structure and linkage disequilibrium in an industrial oilseed crop, Brassica carinata A. Braun

狭窄的遗传基础塑造了工业油料作物芥菜(Brassica carinata A. Braun)的群体结构和连锁不平衡。

Khedikar, Yogendra; Clarke, Wayne E; Chen, Lifeng; Higgins, Erin E; Kagale, Sateesh; Koh, Chu Shin; Bennett, Rick; Parkin, Isobel A P

A crowdsourced set of curated structural variants for the human genome

一套由众包者提供的、经过精心整理的人类基因组结构变异集

Chapman, Lesley M; Spies, Noah; Pai, Patrick; Lim, Chun Shen; Carroll, Andrew; Narzisi, Giuseppe; Watson, Christopher M; Proukakis, Christos; Clarke, Wayne E; Nariai, Naoki; Dawson, Eric; Jones, Garan; Blankenberg, Daniel; Brueffer, Christian; Xiao, Chunlin; Kolora, Sree Rohit Raj; Alexander, Noah; Wolujewicz, Paul; Ahmed, Azza E; Smith, Graeme; Shehreen, Saadlee; Wenger, Aaron M; Salit, Marc; Zook, Justin M

taxMaps: comprehensive and highly accurate taxonomic classification of short-read data in reasonable time

taxMaps:在合理的时间内对短读数据进行全面、高度准确的分类学分类

Corvelo, André; Clarke, Wayne E; Robine, Nicolas; Zody, Michael C