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

Human de novo mutation rates from a four-generation pedigree reference

来自四代家系参考的人类新生突变率

David Porubsky ,Harriet Dashnow # ,Thomas A Sasani # ,Glennis A Logsdon # ,Pille Hallast # ,Michelle D Noyes # ,Zev N Kronenberg # ,Tom Mokveld # ,Nidhi Koundinya ,Cillian Nolan ,Cody J Steely ,Andrea Guarracino ,Egor Dolzhenko ,William T Harvey ,William J Rowell ,Kirill Grigorev ,Thomas J Nicholas ,Michael E Goldberg ,Keisuke K Oshima ,Jiadong Lin ,Peter Ebert ,W Scott Watkins ,Tiffany Y Leung ,Vincent C T Hanlon ,Sean McGee ,Brent S Pedersen ,Hannah C Happ ,Hyeonsoo Jeong ,Katherine M Munson ,Kendra Hoekzema ,Daniel D Chan ,Yanni Wang ,Jordan Knuth ,Gage H Garcia ,Cairbre Fanslow ,Christine Lambert ,Charles Lee ,Joshua D Smith ,Shawn Levy ,Christopher E Mason ,Erik Garrison ,Peter M Lansdorp ,Deborah W Neklason ,Lynn B Jorde ,Aaron R Quinlan ,Michael A Eberle ,Evan E Eichler

The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Glennis A Logsdon, Allison N Rozanski, Fedor Ryabov, Tamara Potapova, Valery A Shepelev, Claudia R Catacchio, David Porubsky, Yafei Mao, DongAhn Yoo, Mikko Rautiainen, Sergey Koren, Sergey Nurk, Julian K Lucas, Kendra Hoekzema, Katherine M Munson, Jennifer L Gerton, Adam M Phillippy, Mario Ventura, 

Phased nanopore assembly with Shasta and modular graph phasing with GFAse

利用Shasta进行相控纳米孔组装,利用GFase进行模块化图相控。

Ryan Lorig-Roach ,Melissa Meredith ,Jean Monlong ,Miten Jain ,Hugh E Olsen ,Brandy McNulty ,David Porubsky ,Tessa G Montague ,Julian K Lucas ,Chris Condon ,Jordan M Eizenga ,Sissel Juul ,Sean K McKenzie ,Sara E Simmonds ,Jimin Park ,Mobin Asri ,Sergey Koren ,Evan E Eichler ,Richard Axel ,Bruce Martin ,Paolo Carnevali ,Karen H Miga ,Benedict Paten

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree

来自四代家谱的人类新生突变和重组的家族性端粒到端粒参考

David Porubsky, Harriet Dashnow, Thomas A Sasani, Glennis A Logsdon, Pille Hallast, Michelle D Noyes, Zev N Kronenberg, Tom Mokveld, Nidhi Koundinya, Cillian Nolan, Cody J Steely, Andrea Guarracino, Egor Dolzhenko, William T Harvey, William J Rowell, Kirill Grigorev, Thomas J Nicholas, Keisuke K Osh

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

43 条人类 Y 染色体的组装揭示出广泛的复杂性和变异性

Pille Hallast #, Peter Ebert #, Mark Loftus #, Feyza Yilmaz, Peter A Audano, Glennis A Logsdon, Marc Jan Bonder, Weichen Zhou, Wolfram Höps, Kwondo Kim, Chong Li, Savannah J Hoyt, Philip C Dishuck, David Porubsky, Fotios Tsetsos, Jee Young Kwon, Qihui Zhu, Katherine M Munson, Patrick Hasenfeld, Will

Functional analysis of structural variants in single cells using Strand-seq

利用链测序技术对单细胞中的结构变异进行功能分析

Hyobin Jeong # ,Karen Grimes # ,Kerstin K Rauwolf ,Peter-Martin Bruch ,Tobias Rausch ,Patrick Hasenfeld ,Eva Benito ,Tobias Roider ,Radhakrishnan Sabarinathan ,David Porubsky ,Sophie A Herbst ,Büşra Erarslan-Uysal ,Johann-Christoph Jann ,Tobias Marschall ,Daniel Nowak ,Jean-Pierre Bourquin ,Andreas E Kulozik ,Sascha Dietrich ,Beat Bornhauser ,Ashley D Sanders ,Jan O Korbel

Gaps and complex structurally variant loci in phased genome assemblies

分阶段基因组组装中的间隙和复杂的结构变异位点

David Porubsky, Mitchell R Vollger, William T Harvey, Allison N Rozanski, Peter Ebert, Glenn Hickey, Patrick Hasenfeld, Ashley D Sanders, Catherine Stober; Human Pangenome Reference Consortium; Jan O Korbel, Benedict Paten, Tobias Marschall, Evan E Eichler

Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

全基因组长读测序降采样及其对变异调用精度和召回率的影响

William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, Evan E Eichler

The variation and evolution of complete human centromeres

人类完整着丝粒的变异与进化

Glennis A Logsdon, Allison N Rozanski, Fedor Ryabov, Tamara Potapova, Valery A Shepelev, Yafei Mao, Mikko Rautiainen, Sergey Koren, Sergey Nurk, David Porubsky, Julian K Lucas, Kendra Hoekzema, Katherine M Munson, Jennifer L Gerton, Adam M Phillippy, Ivan A Alexandrov, Evan E Eichler

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

全基因组长读测序降采样及其对变异调用精度和召回率的影响

William T Harvey, Peter Ebert, Jana Ebler, Peter A Audano, Katherine M Munson, Kendra Hoekzema, David Porubsky, Christine R Beck, Tobias Marschall, Kiran Garimella, Evan E Eichler