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

Resolving the full spectrum of human genome variation using Linked-Reads

利用Linked-Reads解析人类基因组变异的全谱

Marks, Patrick; Garcia, Sarah; Barrio, Alvaro Martinez; Belhocine, Kamila; Bernate, Jorge; Bharadwaj, Rajiv; Bjornson, Keith; Catalanotti, Claudia; Delaney, Josh; Fehr, Adrian; Fiddes, Ian T; Galvin, Brendan; Heaton, Haynes; Herschleb, Jill; Hindson, Christopher; Holt, Esty; Jabara, Cassandra B; Jett, Susanna; Keivanfar, Nikka; Kyriazopoulou-Panagiotopoulou, Sofia; Lek, Monkol; Lin, Bill; Lowe, Adam; Mahamdallie, Shazia; Maheshwari, Shamoni; Makarewicz, Tony; Marshall, Jamie; Meschi, Francesca; O'Keefe, Christopher J; Ordonez, Heather; Patel, Pranav; Price, Andrew; Royall, Ariel; Ruark, Elise; Seal, Sheila; Schnall-Levin, Michael; Shah, Preyas; Stafford, David; Williams, Stephen; Wu, Indira; Xu, Andrew Wei; Rahman, Nazneen; MacArthur, Daniel; Church, Deanna M

Health and population effects of rare gene knockouts in adult humans with related parents

罕见基因敲除对成年人及其近亲父母的健康和人口影响

Narasimhan, Vagheesh M; Hunt, Karen A; Mason, Dan; Baker, Christopher L; Karczewski, Konrad J; Barnes, Michael R; Barnett, Anthony H; Bates, Chris; Bellary, Srikanth; Bockett, Nicholas A; Giorda, Kristina; Griffiths, Christopher J; Hemingway, Harry; Jia, Zhilong; Kelly, M Ann; Khawaja, Hajrah A; Lek, Monkol; McCarthy, Shane; McEachan, Rosie; O'Donnell-Luria, Anne; Paigen, Kenneth; Parisinos, Constantinos A; Sheridan, Eamonn; Southgate, Laura; Tee, Louise; Thomas, Mark; Xue, Yali; Schnall-Levin, Michael; Petkov, Petko M; Tyler-Smith, Chris; Maher, Eamonn R; Trembath, Richard C; MacArthur, Daniel G; Wright, John; Durbin, Richard; van Heel, David A

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

利用高通量连锁读取测序技术对生殖系和癌症基因组进行单倍型分析

Zheng, Grace X Y; Lau, Billy T; Schnall-Levin, Michael; Jarosz, Mirna; Bell, John M; Hindson, Christopher M; Kyriazopoulou-Panagiotopoulou, Sofia; Masquelier, Donald A; Merrill, Landon; Terry, Jessica M; Mudivarti, Patrice A; Wyatt, Paul W; Bharadwaj, Rajiv; Makarewicz, Anthony J; Li, Yuan; Belgrader, Phillip; Price, Andrew D; Lowe, Adam J; Marks, Patrick; Vurens, Gerard M; Hardenbol, Paul; Montesclaros, Luz; Luo, Melissa; Greenfield, Lawrence; Wong, Alexander; Birch, David E; Short, Steven W; Bjornson, Keith P; Patel, Pranav; Hopmans, Erik S; Wood, Christina; Kaur, Sukhvinder; Lockwood, Glenn K; Stafford, David; Delaney, Joshua P; Wu, Indira; Ordonez, Heather S; Grimes, Susan M; Greer, Stephanie; Lee, Josephine Y; Belhocine, Kamila; Giorda, Kristina M; Heaton, William H; McDermott, Geoffrey P; Bent, Zachary W; Meschi, Francesca; Kondov, Nikola O; Wilson, Ryan; Bernate, Jorge A; Gauby, Shawn; Kindwall, Alex; Bermejo, Clara; Fehr, Adrian N; Chan, Adrian; Saxonov, Serge; Ness, Kevin D; Hindson, Benjamin J; Ji, Hanlee P

A hybrid approach for de novo human genome sequence assembly and phasing

用于从头组装和定相的混合方法

Mostovoy, Yulia; Levy-Sakin, Michal; Lam, Jessica; Lam, Ernest T; Hastie, Alex R; Marks, Patrick; Lee, Joyce; Chu, Catherine; Lin, Chin; Džakula, Željko; Cao, Han; Schlebusch, Stephen A; Giorda, Kristina; Schnall-Levin, Michael; Wall, Jeffrey D; Kwok, Pui-Yan

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

基于大规模并行DNA测序的临床癌症基因组分析检测的开发与验证

Frampton, Garrett M; Fichtenholtz, Alex; Otto, Geoff A; Wang, Kai; Downing, Sean R; He, Jie; Schnall-Levin, Michael; White, Jared; Sanford, Eric M; An, Peter; Sun, James; Juhn, Frank; Brennan, Kristina; Iwanik, Kiel; Maillet, Ashley; Buell, Jamie; White, Emily; Zhao, Mandy; Balasubramanian, Sohail; Terzic, Selmira; Richards, Tina; Banning, Vera; Garcia, Lazaro; Mahoney, Kristen; Zwirko, Zac; Donahue, Amy; Beltran, Himisha; Mosquera, Juan Miguel; Rubin, Mark A; Dogan, Snjezana; Hedvat, Cyrus V; Berger, Michael F; Pusztai, Lajos; Lechner, Matthias; Boshoff, Chris; Jarosz, Mirna; Vietz, Christine; Parker, Alex; Miller, Vincent A; Ross, Jeffrey S; Curran, John; Cronin, Maureen T; Stephens, Philip J; Lipson, Doron; Yelensky, Roman

Genetic determinants of phosphate response in Drosophila.

果蝇磷酸盐反应的遗传决定因素

Bergwitz Clemens, Wee Mark J, Sinha Sumi, Huang Joanne, DeRobertis Charles, Mensah Lawrence B, Cohen Jonathan, Friedman Adam, Kulkarni Meghana, Hu Yanhui, Vinayagam Arunachalam, Schnall-Levin Michael, Berger Bonnie, Perkins Lizabeth A, Mohr Stephanie E, Perrimon Norbert