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

A side-by-side comparison of variant function measurements using deep mutational scanning and base editing

利用深度突变扫描和碱基编辑对变异体功能测量结果进行并排比较

Sokirniy, Ivan; Inam, Haider; Tomaszkiewicz, Marta; Reynolds, Joshua; McCandlish, David; Pritchard, Justin

Characterizing Variants of Uncertain Drug Resistance (VUDRs) Using Quantitative Measurements at Clinical Exposures

利用临床暴露下的定量测量方法表征不确定耐药性变异株(VUDRs)

Inam, Haider; Tomaszkiewicz, Marta; Reynolds, Joshua; Yang, Zeyu; Leighow, Scott; Pritchard, Justin R

The complete sequence of a human Y chromosome

人类Y染色体的完整序列

Rhie, Arang; Nurk, Sergey; Cechova, Monika; Hoyt, Savannah J; Taylor, Dylan J; Altemose, Nicolas; Hook, Paul W; Koren, Sergey; Rautiainen, Mikko; Alexandrov, Ivan A; Allen, Jamie; Asri, Mobin; Bzikadze, Andrey V; Chen, Nae-Chyun; Chin, Chen-Shan; Diekhans, Mark; Flicek, Paul; Formenti, Giulio; Fungtammasan, Arkarachai; Garcia Giron, Carlos; Garrison, Erik; Gershman, Ariel; Gerton, Jennifer L; Grady, Patrick G S; Guarracino, Andrea; Haggerty, Leanne; Halabian, Reza; Hansen, Nancy F; Harris, Robert; Hartley, Gabrielle A; Harvey, William T; Haukness, Marina; Heinz, Jakob; Hourlier, Thibaut; Hubley, Robert M; Hunt, Sarah E; Hwang, Stephen; Jain, Miten; Kesharwani, Rupesh K; Lewis, Alexandra P; Li, Heng; Logsdon, Glennis A; Lucas, Julian K; Makalowski, Wojciech; Markovic, Christopher; Martin, Fergal J; Mc Cartney, Ann M; McCoy, Rajiv C; McDaniel, Jennifer; McNulty, Brandy M; Medvedev, Paul; Mikheenko, Alla; Munson, Katherine M; Murphy, Terence D; Olsen, Hugh E; Olson, Nathan D; Paulin, Luis F; Porubsky, David; Potapova, Tamara; Ryabov, Fedor; Salzberg, Steven L; Sauria, Michael E G; Sedlazeck, Fritz J; Shafin, Kishwar; Shepelev, Valery A; Shumate, Alaina; Storer, Jessica M; Surapaneni, Likhitha; Taravella Oill, Angela M; Thibaud-Nissen, Françoise; Timp, Winston; Tomaszkiewicz, Marta; Vollger, Mitchell R; Walenz, Brian P; Watwood, Allison C; Weissensteiner, Matthias H; Wenger, Aaron M; Wilson, Melissa A; Zarate, Samantha; Zhu, Yiming; Zook, Justin M; Eichler, Evan E; O'Neill, Rachel J; Schatz, Michael C; Miga, Karen H; Makova, Kateryna D; Phillippy, Adam M

Dynamic evolution of great ape Y chromosomes

类人猿Y染色体的动态演化

Cechova, Monika; Vegesna, Rahulsimham; Tomaszkiewicz, Marta; Harris, Robert S; Chen, Di; Rangavittal, Samarth; Medvedev, Paul; Makova, Kateryna D

Ampliconic Genes on the Great Ape Y Chromosomes: Rapid Evolution of Copy Number but Conservation of Expression Levels

类人猿Y染色体上的扩增基因:拷贝数快速进化但表达水平保守

Vegesna, Rahulsimham; Tomaszkiewicz, Marta; Ryder, Oliver A; Campos-Sánchez, Rebeca; Medvedev, Paul; DeGiorgio, Michael; Makova, Kateryna D

High Satellite Repeat Turnover in Great Apes Studied with Short- and Long-Read Technologies

利用短读长和长读长技术研究大型猿类卫星重复序列的高周转率

Cechova, Monika; Harris, Robert S; Tomaszkiewicz, Marta; Arbeithuber, Barbara; Chiaromonte, Francesca; Makova, Kateryna D

Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes

人类Y染色体扩增基因的剂量调控、基因表达和拷贝数变异

Vegesna, Rahulsimham; Tomaszkiewicz, Marta; Medvedev, Paul; Makova, Kateryna D

DiscoverY: a classifier for identifying Y chromosome sequences in male assemblies

DiscoverY:一种用于识别男性基因组中 Y 染色体序列的分类器

Rangavittal, Samarth; Stopa, Natasha; Tomaszkiewicz, Marta; Sahlin, Kristoffer; Makova, Kateryna D; Medvedev, Paul

Deciphering highly similar multigene family transcripts from Iso-Seq data with IsoCon

利用 IsoCon 从 Iso-Seq 数据中解码高度相似的多基因家族转录本

Sahlin, Kristoffer; Tomaszkiewicz, Marta; Makova, Kateryna D; Medvedev, Paul

High Levels of Copy Number Variation of Ampliconic Genes across Major Human Y Haplogroups

人类主要Y染色体单倍群中扩增基因拷贝数变异水平较高

Ye, Danling; Zaidi, Arslan A; Tomaszkiewicz, Marta; Anthony, Kate; Liebowitz, Corey; DeGiorgio, Michael; Shriver, Mark D; Makova, Kateryna D