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

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

FRS3基因的错义变异会影响不同种族人群的体重指数。

Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Thorolfsdottir, Rosa B; Tamlander, Max; Tragante, Vinicius; Olafsdottir, Thorhildur; Rognvaldsson, Solvi; Sigurdsson, Asgeir; Eggertsson, Hannes P; Aegisdottir, Hildur M; Arnar, David O; Banasik, Karina; Beyter, Doruk; Bjarnason, Ragnar G; Bjornsdottir, Gyda; Brunak, Søren; Topholm Bruun, Mie; Dowsett, Joseph; Einarsson, Eythor; Einarsson, Gudmundur; Erikstrup, Christian; Fridriksdottir, Run; Ghouse, Jonas; Gretarsdottir, Solveig; Halldorsson, Gisli H; Hansen, Torben; Helgadottir, Anna; Holm, Peter C; Ivarsdottir, Erna V; Iversen, Kasper Karmark; Jensen, Bitten Aagaard; Jonsdottir, Ingileif; Knight, Stacey; Knowlton, Kirk U; Kristmundsdottir, Snaedis; Larusdottir, Adalheidur E; Magnusson, Olafur Th; Masson, Gisli; Melsted, Pall; Mikkelsen, Christina; Moore, Kristjan H S; Oddsson, Asmundur; Olason, Pall I; Palsson, Frosti; Pedersen, Ole Birger; Schwinn, Michael; Sigurdsson, Emil L; Skaftason, Aron; Stefansdottir, Lilja; Stefansson, Hreinn; Steingrimsdottir, Thora; Sturluson, Arni; Styrkarsdottir, Unnur; Sørensen, Erik; Teitsdottir, Unnur D; Thorgeirsson, Thorgeir E; Thorisson, Gudmundur A; Thorsteinsdottir, Unnur; Ulfarsson, Magnus O; Ullum, Henrik; Vikingsson, Arnor; Walters, G Bragi; Nadauld, Lincoln D; Bundgaard, Henning; Ostrowski, Sisse Rye; Helgason, Agnar; Halldorsson, Bjarni V; Norddahl, Gudmundur L; Ripatti, Samuli; Gudbjartsson, Daniel F; Thorleifsson, Gudmar; Steinthorsdottir, Valgerdur; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

Accurate quantification of nascent and mature RNAs from single-cell and single-nucleus RNA-seq

对单细胞和单核RNA测序数据中新生和成熟RNA进行精确定量

Sullivan, Delaney K; Hjörleifsson, Kristján Eldjárn; Swarna, Nikhila P; Oakes, Conrad; Holley, Guillaume; Melsted, Páll; Pachter, Lior

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

BRF2 的双等位基因变异与围产期死亡和颅面畸形有关

Mattioli Francesca, Friðriksdóttir Rún, Hebert Anne, Bassani Sissy, Ibrahim Nazia, Naz Shagufta, Chrast Jacqueline, Pailler-Pradeau Clara, Oddsson Ásmundur, Sulem Patrick, Halldorsson Gisli H, Melsted Páll, Guðbjartsson Daníel F, Palombo Flavia, Pippucci Tommaso, Nouri Nayereh, Seri Marco, Farrow Emily G, Saunders Carol J, Guex Nicolas, Ansar Muhammad, Stefansson Kari, Reymond Alexandre

Batch correction methods used in single-cell RNA sequencing analyses are often poorly calibrated

单细胞RNA测序分析中使用的批次校正方法通常校准不佳。

Antonsson, Sindri Emmanúel; Melsted, Páll

Long-read sequencing transcriptome quantification with lr-kallisto

利用 lr-kallisto 进行长读长测序转录组定量

Loving, Rebekah K; Sullivan, Delaney K; Reese, Fairlie; Rebboah, Elisabeth; Sakr, Jasmine; Rezaie, Narges; Liang, Heidi Y; Filimban, Ghassan; Kawauchi, Shimako; Booeshaghi, A Sina; Melsted, Páll; Oakes, Conrad; Trout, Diane; Williams, Brian A; MacGregor, Grant R; Wold, Barbara J; Mortazavi, Ali; Pachter, Lior

Delayed Bacterial Neutrophil Recruitment and Bacterial Bone Dispersion: New Identified Factors in Peri-Prosthetic Joint Infection Development. Insights From an Adult Minipig Model

细菌中性粒细胞募集延迟和细菌骨扩散:假体周围关节感染发展的新发现因素。来自成年小型猪模型的启示

Hartmann, Katrine Top; Peterlin, Anton Alexander Nolte; Hansen, Marie Høy; Birch, Julie Knippel Melsted; Odgaard, Anders; Aalbæk, Bent; Christensen, Mads Holm; Thaarup, Ida; Bjarnsholt, Thomas; de Mesy Bentley, Karen L; Petersen, Andreas; Jensen, Henrik Elvang; Jensen, Louise Kruse

Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations

作者更正:通过遗传学和疾病关联进行大规模血浆蛋白质组学比较

Eldjarn, Grimur Hjorleifsson; Ferkingstad, Egil; Lund, Sigrun H; Helgason, Hannes; Magnusson, Olafur Th; Gunnarsdottir, Kristbjorg; Olafsdottir, Thorunn A; Halldorsson, Bjarni V; Olason, Pall I; Zink, Florian; Gudjonsson, Sigurjon A; Sveinbjornsson, Gardar; Magnusson, Magnus I; Helgason, Agnar; Oddsson, Asmundur; Halldorsson, Gisli H; Magnusson, Magnus K; Saevarsdottir, Saedis; Eiriksdottir, Thjodbjorg; Masson, Gisli; Stefansson, Hreinn; Jonsdottir, Ingileif; Holm, Hilma; Rafnar, Thorunn; Melsted, Pall; Saemundsdottir, Jona; Norddahl, Gudmundur L; Thorleifsson, Gudmar; Ulfarsson, Magnus O; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari

Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

CCDC201基因中终止密码子突变的纯合子会导致原发性卵巢功能不全。

Oddsson, Asmundur; Steinthorsdottir, Valgerdur; Oskarsson, Gudjon R; Styrkarsdottir, Unnur; Moore, Kristjan H S; Isberg, Salvor; Halldorsson, Gisli H; Sveinbjornsson, Gardar; Westergaard, David; Nielsen, Henriette Svarre; Fridriksdottir, Run; Jensson, Brynjar O; Arnadottir, Gudny A; Jonsson, Hakon; Sturluson, Arni; Snaebjarnarson, Audunn S; Andreassen, Ole A; Walters, G Bragi; Nyegaard, Mette; Erikstrup, Christian; Steingrimsdottir, Thora; Lie, Rolv T; Melsted, Pall; Jonsdottir, Ingileif; Halldorsson, Bjarni V; Thorleifsson, Gudmar; Saemundsdottir, Jona; Magnusson, Olafur Th; Banasik, Karina; Sorensen, Erik; Masson, Gisli; Pedersen, Ole Birger; Tryggvadottir, Laufey; Haavik, Jan; Ostrowski, Sisse Rye; Stefansson, Hreinn; Holm, Hilma; Rafnar, Thorunn; Gudbjartsson, Daniel F; Sulem, Patrick; Stefansson, Kari

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease

LAG3基因起始密码子变异与LAG-3表达降低和自身免疫性甲状腺疾病风险增加相关。

Saedis Saevarsdottir ,Kristbjörg Bjarnadottir ,Thorsteinn Markusson ,Jonas Berglund ,Thorunn A Olafsdottir ,Gisli H Halldorsson ,Gudrun Rutsdottir ,Kristbjorg Gunnarsdottir ,Asgeir Orn Arnthorsson ,Sigrun H Lund ,Lilja Stefansdottir ,Julius Gudmundsson ,Ari J Johannesson ,Arni Sturluson ,Asmundur Oddsson ,Bjarni Halldorsson ,Björn R Ludviksson ,Egil Ferkingstad ,Erna V Ivarsdottir ,Gardar Sveinbjornsson ,Gerdur Grondal ,Gisli Masson ,Grimur Hjorleifsson Eldjarn ,Gudmundur A Thorisson ,Katla Kristjansdottir ,Kirk U Knowlton ,Kristjan H S Moore ,Sigurjon A Gudjonsson ,Solvi Rognvaldsson ,Stacey Knight ,Lincoln D Nadauld ,Hilma Holm ,Olafur T Magnusson ,Patrick Sulem ,Daniel F Gudbjartsson ,Thorunn Rafnar ,Gudmar Thorleifsson ,Pall Melsted ,Gudmundur L Norddahl ,Ingileif Jonsdottir ,Kari Stefansson

Publisher Correction: Transformers significantly improve splice site prediction

出版商更正:Transformer显著提高了拼接位点预测的准确性

Jónsson, Benedikt A; Halldórsson, Gísli H; Árdal, Steinþór; Rögnvaldsson, Sölvi; Einarsson, Eyþór; Sulem, Patrick; Guðbjartsson, Daníel F; Melsted, Páll; Stefánsson, Kári; Úlfarsson, Magnús Ö