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

Using a Secure, Continually Updating, Web Source Processing Pipeline to Support the Real-Time Data Synthesis and Analysis of Scientific Literature: Development and Validation Study

利用安全、持续更新的Web源处理管道支持科学文献的实时数据合成与分析:开发与验证研究

Vaghela, Uddhav; Rabinowicz, Simon; Bratsos, Paris; Martin, Guy; Fritzilas, Epameinondas; Markar, Sheraz; Purkayastha, Sanjay; Stringer, Karl; Singh, Harshdeep; Llewellyn, Charlie; Dutta, Debabrata; Clarke, Jonathan M; Howard, Matthew; Serban, Ovidiu; Kinross, James

Predicting the clinical impact of human mutation with deep neural networks

利用深度神经网络预测人类突变的临床影响

Sundaram, Laksshman; Gao, Hong; Padigepati, Samskruthi Reddy; McRae, Jeremy F; Li, Yanjun; Kosmicki, Jack A; Fritzilas, Nondas; Hakenberg, Jörg; Dutta, Anindita; Shon, John; Xu, Jinbo; Batzoglou, Serafim; Li, Xiaolin; Farh, Kyle Kai-How

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

一个包含540万个已定相人类变异的参考数据集,这些变异通过对一个三代17人家系进行测序,并经遗传遗传学验证。

Eberle, Michael A; Fritzilas, Epameinondas; Krusche, Peter; Källberg, Morten; Moore, Benjamin L; Bekritsky, Mitchell A; Iqbal, Zamin; Chuang, Han-Yu; Humphray, Sean J; Halpern, Aaron L; Kruglyak, Semyon; Margulies, Elliott H; McVean, Gil; Bentley, David R