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

The Platinum Pedigree: a long-read benchmark for genetic variants

白金谱系:基因变异的长读长基准

Kronenberg, Zev; Nolan, Cillian; Porubsky, David; Mokveld, Tom; Rowell, William J; Lee, Sangjin; Dolzhenko, Egor; Chang, Pi-Chuan; Holt, James M; Saunders, Christopher T; Olson, Nathan D; Steely, Cody J; McGee, Sean; Guarracino, Andrea; Koundinya, Nidhi; Harvey, William T; Watkins, W Scott; Munson, Katherine M; Hoekzema, Kendra; Chua, Khi Pin; Chen, Xiao; Fanslow, Cairbre; Lambert, Christine; Dashnow, Harriet; Garrison, Erik; Smith, Joshua D; Lansdorp, Peter M; Zook, Justin M; Carroll, Andrew; Jorde, Lynn B; Neklason, Deborah W; Quinlan, Aaron R; Eichler, Evan E; Eberle, Michael A

Complex structural variant visualization with SVTopo

利用 SVTopo 进行复杂结构变异可视化

Belyeu, Jonathan R; Rowell, William J; Lake, Juniper A; Holt, James Matthew; Kronenberg, Zev; Saunders, Christopher T; Eberle, Michael A

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

长读长测序解析了具有临床意义的CYP21A2基因位点,为先天性肾上腺皮质增生症的新型临床检测提供了支持。

Monlong, Jean; Chen, Xiao; Barseghyan, Hayk; Rowell, William J; Negi, Shloka; Nokoff, Natalie; Mohnach, Lauren; Hirsch, Josephine; Finlayson, Courtney; Keegan, Catherine E; Almalvez, Miguel; Berger, Seth I; de Dios, Ivan; McNulty, Brandy; Robertson, Alex; Miga, Karen H; Speiser, Phyllis W; Paten, Benedict; Vilain, Eric; Délot, Emmanuèle C

Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling

Sawfish:利用局部单倍型模型改进长读长结构变异发现和基因分型

Saunders, Christopher T; Holt, James M; Baker, Daniel N; Lake, Juniper A; Belyeu, Jonathan R; Kronenberg, Zev; Rowell, William J; Eberle, Michael A

Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples.

利用超低输入量患者样本的长读长测序数据进行全基因组变异检测

Wang Katherine, Lee Hayan, Aex Cera J, Finot Lucas, Zhu Kevin, Chang Julianna R, Horning Aaron M, Rowell William J, Li Philip, Kingan Sarah B, Snyder Michael P, Erwin Graham S

Characterization and visualization of tandem repeats at genome scale

基因组规模串联重复序列的表征和可视化

Dolzhenko, Egor; English, Adam; Dashnow, Harriet; De Sena Brandine, Guilherme; Mokveld, Tom; Rowell, William J; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C; Cheung, Warren A; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martínez-Cerdeño, Verónica; Bartley, Trevor D; Jin, Peng; Nelson, David L; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R; Sedlazeck, Fritz J; Eberle, Michael A

HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing

HiPhase:对来自 HiFi 测序的小型、结构性和串联重复序列变异进行联合定相

Holt, James M; Saunders, Christopher T; Rowell, William J; Kronenberg, Zev; Wenger, Aaron M; Eberle, Michael

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

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