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

VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements

VACmap:一种用于解析复杂基因组重排的精确长读比对工具

Ding, Hongyu; Sedlazeck, Fritz J; Proukakis, Christos; Morley, Caoimhe; Toffoli, Marco; Schapira, Anthony Hv; Liao, Zhirui; Pu, Lianrong; Zhu, Shanfeng

The biomedical landscape of genomic structural variation in the qatari population

卡塔尔人群基因组结构变异的生物医学概况

Aliyev, Elbay; Syed, Najeeb; Visconti, Alessia; Aliyev, Taghi; Belkadi, Aziz; Ghorbani, Mohammadmersad; Rossi, Niccolò; Naeem, Haroon; Gandhi, Geethanjali Devadoss; Thareja, Gaurav; Al-Maraghi, Aljazi; Aamer, Waleed; Ibrahim, Amal Abdulsalam; Shaath, Rulan; Al-Ajli, Farooq Omar; Razali, Rozaimi Mohamad; Sedlazeck, Fritz J; Davila, Sonia; Akil, Ammira; Suhre, Karsten; Mokrab, Younes; Falchi, Mario; Fakhro, Khalid A

Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications

评估牛津纳米孔测序技术在临床基因组学应用中的准备情况

Arres, Judith; Elavalli, Santosh; Behl, Shalini; Matias Sanchez, Daniel; Al Ali, Ayesha; Saad, Abdelrahman Ahmed Yehia Abdelaziz; Attia, Azza; Minas, Cyla; Pariyachery, Sharika; Ahmed, Shariq; Aldhuhoori, Fatmah; Thulasidharan, Nitu; Katagi, Gurunath; Soliman, Omar; Purohit, Shilp; Kusuma, Vinay; Cardenas, Raony; Cardoso, Thyago; Paulin, Luis F; Sanio, Philippe; Mafofo, Joseph; Wu, Haiguo; Zvereff, Val; El-Khani, Albarah; Al Marzooqi, Fahed; Magalhães, Tiago R; Sedlazeck, Fritz J; Quilez, Javier

STRspy2.0: Unlocking the Potential of Long Reads for Forensic DNA Profiling

STRspy2.0:释放长读长测序在法医DNA分析中的潜力

Hall, Courtney L; Kesharwani, Rupesh K; McBroom Henson, Katherine E; Kapema, Bupe; Phillips, Nicole R; Sedlazeck, Fritz J; Zascavage, Roxanne R

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

A systematic assessment of machine learning for structural variant filtering

对用于结构变异过滤的机器学习进行系统评估

Kalra, Archit; Paulin, Luis F; Sedlazeck, Fritz J

Scalable and comprehensive mosaic variant calling using DRAGEN

使用 DRAGEN 进行可扩展且全面的嵌合变异检测

Behera, Sairam; Rossi, Massimiliano; Wang, Yina; Izydorczyk, Michal B; Tran, Duke; Dalgard, Clifton L; Kalef-Ezra, Ester; Kottapalli, Kavya; Mehta, Heer; Parnaby, Gavin; Risse-Adams, Oona Shigeno; Scholz, Sonja W; Shen, Helen; Nelson, Theodore M; Visvanath, Arun; Zheng, Xinchang; Doddapaneni, Harsha; Garcia, Thomas; Mason, Christopher E; Proukakis, Christos; Han, James; Mehio, Rami; Catreux, Severine; Sedlazeck, Fritz J

Comprehensive detection of genetic and epigenetic alterations in cancer using long reads with TumorLens

利用TumorLens长读长技术对癌症中的遗传和表观遗传改变进行全面检测

Paulin, Luis F; Shi, Minyi; Fu, Yilei; Zheng, Xinchang; Au-Yeung, George; Bowtell, David; Chen, Jieming; Liang, Yuxin; Hammer, Christian; Sedlazeck, Fritz J

Population-scale interpretation of RNA isoform diversity enabled by Isopedia

Isopedia 实现了对 RNA 同工型多样性的群体尺度解读。

Zheng, Xinchang; Kronenberg, Zev; Garcia-Ruiz, Sonia; Layer, Ryan M; Gustavsson, Emil K; Ryten, Mina; Sedlazeck, Fritz J

Computational analysis of DNA methylation from long-read sequencing

基于长读长测序的DNA甲基化计算分析

Fu, Yilei; Timp, Winston; Sedlazeck, Fritz J