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

NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain

NPEPPS 片段重复驱动人脑中 TBC1D3 的位置效应表达

Guitart, Xavi; Brunner, Jessie W; Ren, Luyao; Jeong, Hyeonsoo; Yoo, DongAhn; Porubsky, David; Hoekzema, Kendra; Munson, Katherine M; Sun, Kaitlyn A; Ayllon, Marcelo; Hoglin, Kaylynn; McMullen, Reed; Pavlovic, Bryan; Vollger, Mitchell R; Pollen, Alex A; Eichler, Evan E

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

rustybam: a composable toolkit for alignment analysis and visualization with SafFire

rustybam:一个用于使用 SafFire 进行比对分析和可视化的可组合工具包

Vollger, Mitchell R

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

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

The regulatory potential of transposable elements in maize

玉米转座因子的调控潜力

Kerry L Bubb, Morgan O Hamm, Thomas W Tullius, Joseph K Min, Bryan Ramirez-Corona, Nicholas A Mueth, Jane Ranchalis, Yizi Mao, Erik J Bergstrom, Mitchell R Vollger, Cole Trapnell, Josh T Cuperus, Andrew B Stergachis, Christine Queitsch

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

利用 IsoRanker 进行长读长转录组分析,以识别孟德尔遗传病中的致病变异。

Cheng, Yong-Han Hank; Sedeño-Cortés, Adriana E; Ranchalis, Jane E; Munson, Katherine M; Vollger, Mitchell R; Balton, Elsa; Genetti, Casie A; Wojcik, Monica H; Beggs, Alan H; Bamshad, Michael J; Wei, Chia-Lin; Dipple, Katrina M; Kumar, Runjun D; Blue, Elizabeth E; Jarvik, Gail; Chong, Jessica X; Witten, Daniela M; O'Donnell-Luria, Anne; Stergachis, Andrew B

Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

人类特异性 NOTCH2NL 重复的遗传多样性和调控特征

Real, Taylor D; Hebbar, Prajna; Yoo, DongAhn; Antonacci, Francesca; Pačar, Ivana; Diekhans, Mark; Mikol, Gregory J; Popoola, Oyeronke G; Mallory, Benjamin J; Vollger, Mitchell R; Dishuck, Philip C; Guitart, Xavi; Rozanski, Allison N; Munson, Katherine M; Hoekzema, Kendra; Ranchalis, Jane E; Neph, Shane J; Sedeño-Cortes, Adriana E; Paten, Benedict; Salama, Sofie R; Stergachis, Andrew B; Eichler, Evan E

Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian Condition

整合单分子测序和深度学习技术预测孟德尔遗传病中单倍型特异性三维染色质结构

Dubocanin, Danilo; Kalygina, Anna; Franklin, J Matthew; Chittenden, Cy; Vollger, Mitchell R; Neph, Shane; Stergachis, Andrew B; Altemose, Nicolas

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