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

Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences

长读长MitoScope揭示了组织分辨的体细胞线粒体变异和核内嵌入线粒体序列的分布图谱

Zakarian, Christina; Smith, Joshua D; Wong, Chee Hong; Frazar, Christian D; Ryke, Erica; McGee, Sean R; Richardson, Matthew; Weiss, Jeffrey M; Munson, Katherine M; Hoekzema, Kendra; Mack, Taralynn; Kwon, Youngjun; Ou, Jeffrey; Neph, Shane; Sohn, Min-Hwan; Minkina, Anna; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E; Wei, Chia-Lin

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions

供体特异性组装可增强复杂基因组区域中体细胞结构变异的检测

Mack, Taralynn; Lin, Jiadong; Ren, Luyao; Sohn, Min-Hwan; Minkina, Anna; Kwon, Youngjun; Yoo, DongAhn; Sui, Yang; Munson, Katherine M; Hoekzema, Kendra; Mastrorosa, F Kumara; Sorensen, Melanie; Ayllon, Marcelo; Sun, Kaitlyn A; Koundiya, Nidhi; Ou, Jeffrey; Noyes, Michelle D; Sedeño-Cortés, Adriana; Leonardson, Amy; Jacques, Caitlin N; Oliviera, Chris; Frazar, Christian D; Zakarian, Christina; Jensen, Dana M; Swanson, Elliot G; Ryke, Erica; Kolar, J Thomas; Ranchalis, Jane; Sutherlin, Lila; Vollger, Mitchell R; Loy, Kelsey; Pham, Meranda M; Huang, Meng-Fan; Au, Natalie Yt; Nielsen, Patrick M; McGee, Sean R; Neph, Shane; Bohaczuk, Stephanie; Shaffer, Tristan; Freeman, Vea; Mao, Yizi; Stillman, Benjamin Cohen; Richardson, Matthew; Smith, Joshua D; Weiss, Jeffrey M; Parmalee, Nancy L; Wei, Chia-Lin; Bennett, James T; Stergachis, Andrew B; Eichler, Evan E

The Somatic Mosaicism across Human Tissues Network

人体组织中的体细胞镶嵌网络

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M

Mapping single-cell diploid chromatin fiber architectures using DAF-seq

利用DAF-seq技术绘制单细胞二倍体染色质纤维结构图谱

Swanson, Elliott G; Mao, Yizi; Mallory, Benjamin J; Vollger, Mitchell R; Bohaczuk, Stephanie C; Oliveira, Christopher B; Lyon, Daniel B; Ranchalis, Jane; Parmalee, Nancy L; Cohen, Barak A; Bennett, James T; Stergachis, Andrew B

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

孤立性侧向过度生长与肿瘤筛查的必要性:美国医学遗传学和基因组学学会 (ACMG) 的临床实践资源

Erwin, Angelika L; El Haija, Aya Abu; Bennett, James T; Biesecker, Leslie G; Deardorff, Matthew A; Hathaway, Evan R; Li, Marilyn M; Martinez-Agosto, Julian; Walsh, Michael; Kalish, Jennifer M

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序技术,在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。

Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T

A telomere-to-telomere map of somatic mutation burden and functional impact in cancer

癌症中体细胞突变负荷和功能影响的端粒到端粒图谱

Sohn, Min-Hwan; Dubocanin, Danilo; Vollger, Mitchell R; Kwon, Youngjun; Minkina, Anna; Munson, Katherine M; Hart, Samuel Fm; Ranchalis, Jane E; Parmalee, Nancy L; Sedeño-Cortés, Adriana E; Ou, Jeffrey; Au, Natalie Yt; Bohaczuk, Stephanie; Carroll, Brianne; Frazar, Christian D; Harvey, William T; Hoekzema, Kendra; Huang, Meng-Fan; Jacques, Caitlin N; Jensen, Dana M; Kolar, J Thomas; Lee, Rosa; Lin, Jiadong; Loy, Kelsey; Mack, Taralynn; Mao, Yizi; Pham, Meranda M; Ryke, Erica; Smith, Joshua D; Sutherlin, Lila; Swanson, Elliott G; Weiss, Jeffrey M; Wg, SMaHT Assembly; Carvalho, Claudia; Coorens, Tim Hh; Harris, Kelley; Wei, Chia-Lin; Eichler, Evan E; Altemose, Nicolas; Bennett, James T; Stergachis, Andrew B

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

利用短读长和长读长数据对超低等位基因频率下的体细胞单核苷酸变异和插入缺失检测进行全面基准测试

Jiny Ha, Yoo-Jin; Maziec, Dominika; Markowski, Julia; Georges, Stephanie J; Parmalee, Nancy L; Berselli, Michele; Coorens, Tim H H; Dong, Shihua; Gardiner, Stephanie; Kalra, Divya; Li, Daofeng; Miao, Benpeng; Musunuri, Rajeeva; Xue, Liying; Yu, Zhi; Walker, Kimberly; Anderson, Lisa; Au, Natalie Y T; Cibulskis, Carrie; Doddapaneni, Harsha; Grochowski, Christopher M; Jensen, Dana M; Lindsay, Tina; Loy, Kelsey; Narayan, Azeet; Narzisi, Giuseppe; Ou, Jeffrey; Pham, Meranda M; Runnels, Alexi M; Stergachis, Andrew B; Sutherlin, Lila M; Wang, Ting; Jin, Hu; Feng, William C; Zhang, Yuwei; Veit, Alexander D; TaeHee Kim, Clara; Chun, Hye-Jung E; Ardlie, Kristin; Fulton, Robert S; Germer, Soren; Gibbs, Richard; Marth, Gabor T; Bennett, James T; Park, Peter J

A haplotype-resolved view of human gene regulation.

基于单倍型解析的人类基因调控观点

Vollger Mitchell R, Swanson Elliott G, Neph Shane J, Ranchalis Jane, Munson Katherine M, Ho Ching-Huang, Cheng Y H Hank, Sedeño-Cortés Adriana E, Fondrie William E, Bohaczuk Stephanie C, Dippel Maxwell A, Mao Yizi, Parmalee Nancy L, Mallory Benjamin J, Harvey William T, Kwon Younjun, Garcia Gage H, Hoekzema Kendra, Meyer Jeffrey G, Cicek Mine, Eichler Evan E, Noble William S, Witten Daniela M, Bennett James T, Ray John P, Stergachis Andrew B

Bipolar sternocleidomastoid partial resection in pediatric patients case report: Technique and early outcomes

儿童双极胸锁乳突肌部分切除术病例报告:手术技巧及早期疗效

Obana, Kyle K; Myers, Annika Y; Bennett, James T; Siddiqui, Ali A; Fan, Bensen B; Andras, Lindsay M; Wren, Tishya A L; Skaggs, David L