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

Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits

复杂性状和孟德尔性状多效性的功能决定因素和进化后果

Barbitoff, Yury A; Bogaichuk, Polina M; Pavlova, Nadezhda S; Malysheva, Polina V; Predeus, Alexander V

Cross-Study Meta-Analysis of Blood Transcriptomes in Type 2 Diabetes

2型糖尿病血液转录组的跨研究荟萃分析

Tkachenko, Aleksandr A; Tonyan, Ziravard N; Nasykhova, Yulia A; Barbitoff, Yury A; Renev, Iaroslav N; Danilova, Maria M; Basipova, Anastasiia A; Glavnova, Olga B; Polev, Dmitrii E; Chepanov, Sergey V; Selkov, Sergey A; Golovkin, Nikita V; Vlasova, Margarita E; Glotov, Andrey S

PLoV: a comprehensive database of genetic variants leading to pregnancy loss

PLoV:一个包含导致妊娠丢失的遗传变异的综合数据库

Maksiutenko, Evgeniia M; Bezdvornykh, Igor V; Barbitoff, Yury A; Nasykhova, Yulia A; Glotov, Andrey S

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges

俄罗斯孕前携带者筛查试点研究:初步发现与挑战

Glotov, Andrei S; Nasykhova, Yulia A; Lazareva, Tatyana E; Dvoynova, Natalya M; Shabanova, Elena S; Danilova, Maria M; Osinovskaya, Natalia S; Barbitoff, Yury A; Maretina, Marianna A; Gorodnicheva, Elizaveta E; Tonyan, Ziravard N; Kiselev, Anton V; Basipova, Anastasiia A; Bespalova, Olesya N; Kogan, Igor Yu

A systematic review on the generative AI applications in human medical genetics

人类医学遗传学中生成式人工智能应用的系统性综述

Changalidis, Anton; Barbitoff, Yury; Nasykhova, Yulia; Glotov, Andrey

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples

通过跨实验室数据整合扩展俄罗斯等位基因频率参考:来自 7452 个外显子组样本的启示

Barbitoff, Yury A; Khmelkova, Darya N; Pomerantseva, Ekaterina A; Slepchenkov, Aleksandr V; Zubashenko, Nikita A; Mironova, Irina V; Kaimonov, Vladimir S; Polev, Dmitrii E; Tsay, Victoria V; Glotov, Andrey S; Aseev, Mikhail V; Shcherbak, Sergey G; Glotov, Oleg S; Isaev, Arthur A; Predeus, Alexander V

Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges

利用生物信息学方法发现种系变异以进行罕见病诊断:当前方法与尚存挑战

Yury A Barbitoff ,Mikhail O Ushakov ,Tatyana E Lazareva ,Yulia A Nasykhova ,Andrey S Glotov ,Alexander V Predeus

Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis

罕见病变异致病性解释存在冲突的主要原因:一项系统分析

Lazareva, Tatyana E; Barbitoff, Yury A; Nasykhova, Yulia A; Glotov, Andrey S

Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen

利用英国生物银行和芬兰基因库(FinnGen)数据,在生物银行规模数据集上复制已知关联并识别新关联:一项调查

Tkachenko, Alexander A; Changalidis, Anton I; Maksiutenko, Evgeniia M; Nasykhova, Yulia A; Barbitoff, Yury A; Glotov, Andrey S

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

对高海拔登山者进行外显子组测序,发现RTEL1和COL6A1基因中存在致病变异,这些变异此前已与呼吸衰竭相关。

Maksiutenko, Evgeniia M; Merkureva, Valeriia; Barbitoff, Yury A; Tsay, Victoria V; Aseev, Mikhail V; Glotov, Andrey S; Glotov, Oleg S