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

Small variant benchmark from a complete assembly of X and Y chromosomes

来自 X 和 Y 染色体完整组装的小变异基准

Wagner, Justin; Olson, Nathan D; McDaniel, Jennifer; Harris, Lindsay; Pinto, Brendan J; Jáspez, David; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Lorenzo-Salazar, José M; Flores, Carlos; Sahraeian, Sayed Mohammad Ebrahim; Narzisi, Giuseppe; Byrska-Bishop, Marta; Evani, Uday S; Xiao, Chunlin; Lake, Juniper A; Fontana, Peter; Greenberg, Craig; Freed, Donald; Mootor, Mohammed Faizal Eeman; Boutros, Paul C; Murray, Lisa; Shafin, Kishwar; Carroll, Andrew; Sedlazeck, Fritz J; Wilson, Melissa; Zook, Justin M

Towards accurate indel calling for oncopanel sequencing through an international pipeline competition at precisionFDA

通过 precisionFDA 的国际管道竞赛,实现肿瘤面板测序的准确插入/缺失调用

Binsheng Gong, Samir Lababidi, Rebecca Kusko, Khaled Bouri, Sarah Prezek, Vishal Thovarai, Anish Prasanna, Ezekiel J Maier, Mahdi Golkaram, Xingqiang Sun, Konstantinos Kyriakidis, João Paulo Kitajima, Sayed Mohammad Ebrahim Sahraeian, Yunfei Guo, Elaine Johanson, Wendell Jones, Weida Tong, Joshua Xu

Curated variation benchmarks for challenging medically relevant autosomal genes

针对具有挑战性的医学相关常染色体基因的精选变异基准

Wagner, Justin; Olson, Nathan D; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M; Rowell, William J; Khan, Ziad M; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E; Jáspez, David; Lorenzo-Salazar, José M; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E; Lee, Joyce; Mason, Christopher E; Lincoln, Stephen E; Miga, Karen H; Ebbert, Mark T W; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M; Sedlazeck, Fritz J

Achieving robust somatic mutation detection with deep learning models derived from reference data sets of a cancer sample

利用从癌症样本参考数据集中提取的深度学习模型,实现稳健的体细胞突变检测

Sahraeian, Sayed Mohammad Ebrahim; Fang, Li Tai; Karagiannis, Konstantinos; Moos, Malcolm; Smith, Sean; Santana-Quintero, Luis; Xiao, Chunlin; Colgan, Michael; Hong, Huixiao; Mohiyuddin, Marghoob; Xiao, Wenming

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

建立用于全基因组测序癌症突变检测基准测试的社区参考样本、数据和调用集

Li Tai Fang # ,Bin Zhu # ,Yongmei Zhao # ,Wanqiu Chen ,Zhaowei Yang ,Liz Kerrigan ,Kurt Langenbach ,Maryellen de Mars ,Charles Lu ,Kenneth Idler ,Howard Jacob ,Yuanting Zheng ,Luyao Ren ,Ying Yu ,Erich Jaeger ,Gary P Schroth ,Ogan D Abaan ,Keyur Talsania ,Justin Lack ,Tsai-Wei Shen ,Zhong Chen ,Seta Stanbouly ,Bao Tran ,Jyoti Shetty ,Yuliya Kriga ,Daoud Meerzaman ,Cu Nguyen ,Virginie Petitjean ,Marc Sultan ,Margaret Cam ,Monika Mehta ,Tiffany Hung ,Eric Peters ,Rasika Kalamegham ,Sayed Mohammad Ebrahim Sahraeian ,Marghoob Mohiyuddin ,Yunfei Guo ,Lijing Yao ,Lei Song ,Hugo Y K Lam ,Jiri Drabek ,Petr Vojta ,Roberta Maestro ,Daniela Gasparotto ,Sulev Kõks ,Ene Reimann ,Andreas Scherer ,Jessica Nordlund ,Ulrika Liljedahl ,Roderick V Jensen ,Mehdi Pirooznia ,Zhipan Li ,Chunlin Xiao ,Stephen T Sherry ,Rebecca Kusko ,Malcolm Moos ,Eric Donaldson ,Zivana Tezak ,Baitang Ning ,Weida Tong ,Jing Li ,Penelope Duerken-Hughes ,Claudia Catalanotti ,Shamoni Maheshwari ,Joe Shuga ,Winnie S Liang ,Jonathan Keats ,Jonathan Adkins ,Erica Tassone ,Victoria Zismann ,Timothy McDaniel ,Jeffrey Trent ,Jonathan Foox ,Daniel Butler ,Christopher E Mason ,Huixiao Hong ,Leming Shi ,Charles Wang ,Wenming Xiao

A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

用于评估癌症检测组合检测低等位基因频率小变异性能的已验证基因组参考样本

Wendell Jones ,Binsheng Gong ,Natalia Novoradovskaya ,Dan Li ,Rebecca Kusko ,Todd A Richmond ,Donald J Johann Jr ,Halil Bisgin ,Sayed Mohammad Ebrahim Sahraeian ,Pierre R Bushel ,Mehdi Pirooznia ,Katherine Wilkins ,Marco Chierici ,Wenjun Bao ,Lee Scott Basehore ,Anne Bergstrom Lucas ,Daniel Burgess ,Daniel J Butler ,Simon Cawley ,Chia-Jung Chang ,Guangchun Chen ,Tao Chen ,Yun-Ching Chen ,Daniel J Craig ,Angela Del Pozo ,Jonathan Foox ,Margherita Francescatto ,Yutao Fu ,Cesare Furlanello ,Kristina Giorda ,Kira P Grist ,Meijian Guan ,Yingyi Hao ,Scott Happe ,Gunjan Hariani ,Nathan Haseley ,Jeff Jasper ,Giuseppe Jurman ,David Philip Kreil ,Paweł Łabaj ,Kevin Lai ,Jianying Li ,Quan-Zhen Li ,Yulong Li ,Zhiguang Li ,Zhichao Liu ,Mario Solís López ,Kelci Miclaus ,Raymond Miller ,Vinay K Mittal ,Marghoob Mohiyuddin ,Carlos Pabón-Peña ,Barbara L Parsons ,Fujun Qiu ,Andreas Scherer ,Tieliu Shi ,Suzy Stiegelmeyer ,Chen Suo ,Nikola Tom ,Dong Wang ,Zhining Wen ,Leihong Wu ,Wenzhong Xiao ,Chang Xu ,Ying Yu ,Jiyang Zhang ,Yifan Zhang ,Zhihong Zhang ,Yuanting Zheng ,Christopher E Mason ,James C Willey ,Weida Tong ,Leming Shi ,Joshua Xu

Hidden biases in germline structural variant detection

种系结构变异检测中的隐藏偏差

Michael M Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan, Leming Shi, Richard A Gibbs, Marghoob Mohiyuddin, Yuanting Zheng, Fritz J Sedlazeck

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis

通过进行广谱RNA测序分析,获得对转录组的全面生物学见解

Sahraeian, Sayed Mohammad Ebrahim; Mohiyuddin, Marghoob; Sebra, Robert; Tilgner, Hagen; Afshar, Pegah T; Au, Kin Fai; Bani Asadi, Narges; Gerstein, Mark B; Wong, Wing Hung; Snyder, Michael P; Schadt, Eric; Lam, Hugo Y K

Digital genotyping of sorghum - a diverse plant species with a large repeat-rich genome

高粱的数字化基因分型——一种具有大量重复基因组的多样化植物物种

Daryl T Morishige, Patricia E Klein, Josie L Hilley, Sayed Mohammad Ebrahim Sahraeian, Arun Sharma, John E Mullet

Genetic structure and linkage disequilibrium in a diverse, representative collection of the C4 model plant, Sorghum bicolor

C4 模型植物高粱的多样化、代表性集合中的遗传结构和连锁不平衡

Yi-Hong Wang, Hari D Upadhyaya, A Millie Burrell, Sayed Mohammad Ebrahim Sahraeian, Robert R Klein, Patricia E Klein