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

Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference

利用大型语言模型和贝叶斯推断,结合基因型和表型数据进行群体规模的变异分类

Manders, Toby R; Tan, Christopher A; Kobayashi, Yuya; Wahl, Alexander; Araya, Carlos; Colavin, Alexandre; Facio, Flavia M; Metz, Hillery; Reuter, Jason; Frésard, Laure; Padigepati, Samskruthi R; Stafford, David A; Nussbaum, Robert L; Nykamp, Keith

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

系统性地检测人类HMBS错义变异,以揭示其机制和致病变异

van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P

Extracting phylogenetic dimensions of coevolution reveals hidden functional signals

提取协同进化的系统发育维度揭示了隐藏的功能信号

Colavin, Alexandre; Atolia, Esha; Bitbol, Anne-Florence; Huang, Kerwyn Casey

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

疾病基因中剪接变异谱以及RNA分析降低临床解读不确定性的能力

Truty, Rebecca; Ouyang, Karen; Rojahn, Susan; Garcia, Sarah; Colavin, Alexandre; Hamlington, Barbara; Freivogel, Mary; Nussbaum, Robert L; Nykamp, Keith; Aradhya, Swaroop

RodZ modulates geometric localization of the bacterial actin MreB to regulate cell shape

RodZ通过调节细菌肌动蛋白MreB的几何定位来调控细胞形状

Colavin, Alexandre; Shi, Handuo; Huang, Kerwyn Casey

Strain Library Imaging Protocol for high-throughput, automated single-cell microscopy of large bacterial collections arrayed on multiwell plates

用于对排列在多孔板上的大量细菌进行高通量、自动化单细胞显微成像的菌株库成像方案

Shi, Handuo; Colavin, Alexandre; Lee, Timothy K; Huang, Kerwyn Casey

Rapid, precise quantification of bacterial cellular dimensions across a genomic-scale knockout library

快速、精确地量化基因组规模敲除文库中细菌细胞的尺寸

Ursell, Tristan; Lee, Timothy K; Shiomi, Daisuke; Shi, Handuo; Tropini, Carolina; Monds, Russell D; Colavin, Alexandre; Billings, Gabriel; Bhaya-Grossman, Ilina; Broxton, Michael; Huang, Bevan Emma; Niki, Hironori; Huang, Kerwyn Casey

Coordination of peptidoglycan synthesis and outer membrane constriction during Escherichia coli cell division

大肠杆菌细胞分裂过程中肽聚糖合成与外膜收缩的协调

Andrew N Gray, Alexander J F Egan, Inge L Van't Veer, Jolanda Verheul, Alexandre Colavin, Alexandra Koumoutsi, Jacob Biboy, A F Maarten Altelaar, Mirjam J Damen, Kerwyn Casey Huang, Jean-Pierre Simorre, Eefjan Breukink, Tanneke den Blaauwen, Athanasios Typas, Carol A Gross, Waldemar Vollmer