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ArticlesPeer ReviewedFull Text
Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning
Author / Creator:Vitsios, Dimitrios ; Dhindsa, Ryan S. ; Middleton, Lawrence ; Gussow, Ayal B. ; Petrovski, Slavé
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-03, Vol.12 (1), p.1504-1504, Article 1504
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mRNA 3′ uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome
Author / Creator:Morgan, Marcos ; Much, Christian ; DiGiacomo, Monica ; Azzi, Chiara ; Ivanova, Ivayla ; Vitsios, Dimitrios M. ; Pistolic, Jelena ; Collier, Paul ; Moreira, Pedro N. ; Benes, Vladimir ; Enright, Anton J. ; O’Carroll, Dónal
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2017-08, Vol.548 (7667), p.347-351
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Diverse ancestral representation improves genetic intolerance metrics
Author / Creator:Han, Alexander L. ; Sands, Chloe F. ; Matelska, Dorota ; Butts, Jessica C. ; Ravanmehr, Vida ; Hu, Fengyuan ; Villavicencio Gonzalez, Esmeralda ; Katsanis, Nicholas ; Bustamante, Carlos D. ; Wang, Quanli ; Petrovski, Slavé ; Vitsios, Dimitrios ; Dhindsa, Ryan S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-03, Vol.16 (1), p.2648-9, Article 2648
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ArticlesPeer ReviewedFull Text
Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities
Author / Creator:Loesch, Douglas P. ; Garg, Manik ; Matelska, Dorota ; Vitsios, Dimitrios ; Jiang, Xiao ; Ritchie, Scott C. ; Sun, Benjamin B. ; Runz, Heiko ; Whelan, Christopher D. ; Holman, Rury R. ; Mentz, Robert J. ; Moura, Filipe A. ; Wiviott, Stephen D. ; Sabatine, Marc S. ; Udler, Miriam S. ; Gause-Nilsson, Ingrid A. ; Petrovski, Slavé ; Oscarsson, Jan ; Nag, Abhishek ; Paul, Dirk S. ; Inouye, Michael
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-03, Vol.16 (1), p.2124-16, Article 2124
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ArticlesPeer ReviewedFull Text
RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns
Author / Creator:Brennan, Gary P. ; Vitsios, Dimitrios M. ; Casey, Sophie ; Looney, Ann-Marie ; Hallberg, Boubou ; Henshall, David C. ; Boylan, Geraldine B. ; Murray, Deirdre M. ; Mooney, Catherine
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-12, Vol.13 (12), p.e0207952-e0207952
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ArticlesPeer ReviewedFull Text
In situ functional dissection of RNA cis-regulatory elements by multiplex CRISPR-Cas9 genome engineering
Author / Creator:Wu, Qianxin ; Ferry, Quentin R. V. ; Baeumler, Toni A. ; Michaels, Yale S. ; Vitsios, Dimitrios M. ; Habib, Omer ; Arnold, Roland ; Jiang, Xiaowei ; Maio, Stefano ; Steinkraus, Bruno R. ; Tapia, Marta ; Piazza, Paolo ; Xu, Ni ; Holländer, Georg A. ; Milne, Thomas A. ; Kim, Jin-Soo ; Enright, Anton J. ; Bassett, Andrew R. ; Fulga, Tudor A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-12, Vol.8 (1), p.2109-17, Article 2109
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DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets
Author / Creator:Raies, Arwa ; Tulodziecka, Ewa ; Stainer, James ; Middleton, Lawrence ; Dhindsa, Ryan S. ; Hill, Pamela ; Engkvist, Ola ; Harper, Andrew R. ; Petrovski, Slavé ; Vitsios, Dimitrios
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2022-11, Vol.5 (1), p.1291-1291, Article 1291
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Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Author / Creator:Dhindsa, Ryan S. ; Mattsson, Johan ; Nag, Abhishek ; Wang, Quanli ; Wain, Louise V. ; Allen, Richard ; Wigmore, Eleanor M. ; Ibanez, Kristina ; Vitsios, Dimitrios ; Deevi, Sri V. V. ; Wasilewski, Sebastian ; Karlsson, Maria ; Lassi, Glenda ; Olsson, Henric ; Muthas, Daniel ; Monkley, Susan ; Mackay, Alex ; Murray, Lynne ; Young, Simon ; Haefliger, Carolina ; Maher, Toby M. ; Belvisi, Maria G. ; Jenkins, Gisli ; Molyneaux, Philip L. ; Platt, Adam ; Petrovski, Slavé
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2021-03, Vol.4 (1), p.392-392, Article 392
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Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets
Author / Creator:Raies, Arwa ; Tulodziecka, Ewa ; Stainer, James ; Middleton, Lawrence ; Dhindsa, Ryan S. ; Hill, Pamela ; Engkvist, Ola ; Harper, Andrew R. ; Petrovski, Slavé ; Vitsios, Dimitrios
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2023-07, Vol.6 (1), p.710-710, Article 710
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ArticlesPeer ReviewedFull Text
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
Author / Creator:Steward, Charles A. ; Roovers, Jolien ; Suner, Marie-Marthe ; Gonzalez, Jose M. ; Uszczynska-Ratajczak, Barbara ; Pervouchine, Dmitri ; Fitzgerald, Stephen ; Viola, Margarida ; Stamberger, Hannah ; Hamdan, Fadi F. ; Ceulemans, Berten ; Leroy, Patricia ; Nava, Caroline ; Lepine, Anne ; Tapanari, Electra ; Keiller, Don ; Abbs, Stephen ; Sanchis-Juan, Alba ; Grozeva, Detelina ; Rogers, Anthony S. ; Diekhans, Mark ; Guigó, Roderic ; Petryszak, Robert ; Minassian, Berge A. ; Cavalleri, Gianpiero ; Vitsios, Dimitrios ; Petrovski, Slavé ; Harrow, Jennifer ; Flicek, Paul ; Lucy Raymond, F. ; Lench, Nicholas J. ; Jonghe, Peter De ; Mudge, Jonathan M. ; Weckhuysen, Sarah ; Sisodiya, Sanjay M. ; Frankish, Adam
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2019-12, Vol.4 (1), p.31-11, Article 31
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ArticlesPeer ReviewedFull Text
A programmed wave of uridylation-primed mRNA degradation is essential for meiotic progression and mammalian spermatogenesis
Author / Creator:Morgan, Marcos ; Kabayama, Yuka ; Much, Christian ; Ivanova, Ivayla ; Di Giacomo, Monica ; Auchynnikava, Tatsiana ; Monahan, Jack Michael ; Vitsios, Dimitrios Michael ; Vasiliauskaitė, Lina ; Comazzetto, Stefano ; Rappsilber, Juri ; Allshire, Robin Campbell ; Porse, Bo Torben ; Enright, Anton James ; O’Carroll, Dónal
Publisher:London: Nature Publishing Group UK
Journal title:Cell research, 2019-03, Vol.29 (3), p.221-232
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ArticlesPeer ReviewedFull Text
A MILI-independent piRNA biogenesis pathway empowers partial germline reprogramming
Author / Creator:Vasiliauskaitė, Lina ; Vitsios, Dimitrios ; Berrens, Rebecca V ; Carrieri, Claudia ; Reik, Wolf ; Enright, Anton J ; O'Carroll, Dónal
Publisher:New York: Nature Publishing Group US
Journal title:Nature structural & molecular biology, 2017-07, Vol.24 (7), p.604-606
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ArticlesFull Text
Stochastic semi-supervised learning to prioritise genes from high-throughput genomic screens
Author / Creator:Vitsios, Dimitrios ; Petrovski, Slave
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-05
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ArticlesFull Text
Diverse ancestral representation improves genetic intolerance metrics
Author / Creator:Han, Alexander ; Sands, Chloe F ; Matelska, Dorota ; Butts, Jessica C ; Ravanmehr, Vida ; Hu, Fengyuan ; Esmeralda Villavicencio Gonzalez ; Katsanis, Nicholas ; Bustamante, Carlos D ; Wang, Quanli ; Petrovski, Slavé ; Vitsios, Dimitrios ; Dhindsa, Ryan S
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2024-11
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A minimal role for synonymous variation in human disease
Author / Creator:Dhindsa, Ryan S ; Wang, Quanli ; Vitsios, Dimitrios ; Burren, Oliver S ; Hu, Fengyuan ; Dicarlo, James E ; Kruglyak, Leonid ; Macarthur, Daniel G ; Hurles, Matthew E ; Petrovski, Slavé
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-07
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Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants
Author / Creator:Dhindsa, Ryan S ; Burren, Oliver S ; Sun, Benjamin B ; Prins, Bram P ; Matelska, Dorota ; Wheeler, Eleanor ; Mitchell, Jonathan ; Oerton, Erin ; Hristova, Ventzislava A ; Smith, Katherine R ; Carss, Keren ; Wasilewski, Sebastian ; Harper, Andrew R ; Paul, Dirk S ; Fabre, Margarete A ; Runz, Heiko ; Viollet, Coralie ; Challis, Benjamin ; Platt, Adam ; Astrazeneca Genomics Initiative ; Vitsios, Dimitrios ; Ashley, Euan A ; Whelan, Christopher D ; Pangalos, Menelas N ; Wang, Quanli ; Petrovski, Slave
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-10
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Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants
Author / Creator:Wang, Quanli ; Dhindsa, Ryan S ; Carss, Keren ; Harper, Andrew ; Nag, Abhishek ; Tachmazidou, Ioanna ; Vitsios, Dimitrios ; Sri Vv Deevi ; Mackay, Alex ; Muthas, Daniel ; Hühn, Michael ; Monkley, Susan ; Olsson, Henric ; Wasilewski, Sebastian ; Smith, Katherine R ; March, Ruth ; Platt, Adam ; Haefliger, Carolina ; Petrovski, Slavé ; Astrazeneca Genomics Initiative
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-12
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Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Author / Creator:Dhindsa, Ryan S ; Mattsson, Johan ; Nag, Abhishek ; Wang, Quanli ; Wain, Louise V ; Allen, Richard ; Wigmore, Eleanor M ; Ibanez, Kristina ; Vitsios, Dimitrios ; Sri Vv Deevi ; Wasilewski, Sebastian ; Karlsson, Maria ; Lassi, Glenda ; Olsson, Henric ; Muthas, Daniel ; Mackay, Alex ; Murray, Lynne ; Young, Simon ; Haefliger, Carolina ; Consortium, Finngen ; Maher, Toby M ; Belvisi, Maria G ; Jenkins, Gisli ; Molyneaux, Philip ; Platt, Adam ; Petrovski, Slavé
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2020-06
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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Author / Creator:Steward, Charles A ; Roovers, Jolien ; Marie-Marthe Suner ; Jose-Manuel Gonzalez ; Uszczynska-Ratajczak, Barbara ; Pervouchine, Dmitri ; Fitzgerald, Stephen ; Viola Margarida ; Samberger, Hannah ; Hamdan, Fadi ; Ceulemans, Berten ; Leroy, Patricia ; Nava, Caroline ; Lepine, Anne ; Tapanari, Electra ; Keiller, Don ; Abbs, Steve ; Sanchis-Juan, Alba ; Grozeva, Detelina ; Rogers, Anthony S ; Wright, James ; Choudhary, Jyoti ; Deikhans, Mark ; Guigo, Roderic ; Petryszak, Robert ; Minassian, Berge A ; Cavalleri, Gianpiero ; Vistios, Dimitrios ; Petrovski, Slave ; Harrow, Jennifer ; Flicek, Paul ; Raymond, F Lucy ; Lench, Nick J ; De Jonghe, Peter ; Mudge, Jonathan M ; Weckhuysen, Sarah ; Sisodiya, Sanjay M ; Frankish, Adam
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-05
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Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning

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mRNA 3′ uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome

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Diverse ancestral representation improves genetic intolerance metrics

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Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

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RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns

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In situ functional dissection of RNA cis-regulatory elements by multiplex CRISPR-Cas9 genome engineering

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DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

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Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

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Author Correction: DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets

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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

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A programmed wave of uridylation-primed mRNA degradation is essential for meiotic progression and mammalian spermatogenesis

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A MILI-independent piRNA biogenesis pathway empowers partial germline reprogramming

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Stochastic semi-supervised learning to prioritise genes from high-throughput genomic screens

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Diverse ancestral representation improves genetic intolerance metrics

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A minimal role for synonymous variation in human disease

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Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

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Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

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Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

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