XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments

by Alberto Magi, Tommaso Pippucci, Carlo Sidore
Published 2017-09-01

A likelihood-based framework for variant calling and de novo mutation detection in families.

by Bingshan Li, Wei Chen, Xiaowei Zhan, Fabio Busonero, Serena Sanna, Carlo Sidore, Francesco Cucca, Hyun M Kang, Gonçalo R Abecasis
Published 2012-01-01

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.

by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
Published 2015-09-01

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.

by Jun Ding, Carlo Sidore, Thomas J Butler, Mary Kate Wing, Yong Qian, Osorio Meirelles, Fabio Busonero, Lam C Tsoi, Andrea Maschio, Andrea Angius, Hyun Min Kang, Ramaiah Nagaraja, Francesco Cucca, Gonçalo R Abecasis, David Schlessinger
Published 2015-07-01

Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe.

by Martin Sikora, Meredith L Carpenter, Andres Moreno-Estrada, Brenna M Henn, Peter A Underhill, Federico Sánchez-Quinto, Ilenia Zara, Maristella Pitzalis, Carlo Sidore, Fabio Busonero, Andrea Maschio, Andrea Angius, Chris Jones, Javier Mendoza-Revilla, Georgi Nekhrizov, Diana Dimitrova, Nikola Theodossiev, Timothy T Harkins, Andreas Keller, Frank Maixner, Albert Zink, Goncalo Abecasis, Serena Sanna, Francesco Cucca, Carlos D Bustamante
Published 2014-05-01

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

by Serena Sanna, Bingshan Li, Antonella Mulas, Carlo Sidore, Hyun M Kang, Anne U Jackson, Maria Grazia Piras, Gianluca Usala, Giuseppe Maninchedda, Alessandro Sassu, Fabrizio Serra, Maria Antonietta Palmas, William H Wood, Inger Njølstad, Markku Laakso, Kristian Hveem, Jaakko Tuomilehto, Timo A Lakka, Rainer Rauramaa, Michael Boehnke, Francesco Cucca, Manuela Uda, David Schlessinger, Ramaiah Nagaraja, Gonçalo R Abecasis
Published 2011-07-01

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

by Silvia Naitza, Eleonora Porcu, Maristella Steri, Dennis D Taub, Antonella Mulas, Xiang Xiao, James Strait, Mariano Dei, Sandra Lai, Fabio Busonero, Andrea Maschio, Gianluca Usala, Magdalena Zoledziewska, Carlo Sidore, Ilenia Zara, Maristella Pitzalis, Alessia Loi, Francesca Virdis, Roberta Piras, Francesca Deidda, Michael B Whalen, Laura Crisponi, Antonio Concas, Carlo Podda, Sergio Uzzau, Paul Scheet, Dan L Longo, Edward Lakatta, Gonçalo R Abecasis, Antonio Cao, David Schlessinger, Manuela Uda, Serena Sanna, Francesco Cucca
Published 2012-01-01

Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia

by Joseph H. Marcus, Cosimo Posth, Harald Ringbauer, Luca Lai, Robin Skeates, Carlo Sidore, Jessica Beckett, Anja Furtwängler, Anna Olivieri, Charleston W. K. Chiang, Hussein Al-Asadi, Kushal Dey, Tyler A. Joseph, Chi-Chun Liu, Clio Der Sarkissian, Rita Radzevičiūtė, Megan Michel, Maria Giuseppina Gradoli, Patrizia Marongiu, Salvatore Rubino, Vittorio Mazzarello, Daniela Rovina, Alessandra La Fragola, Rita Maria Serra, Pasquale Bandiera, Raffaella Bianucci, Elisa Pompianu, Clizia Murgia, Michele Guirguis, Rosana Pla Orquin, Noreen Tuross, Peter van Dommelen, Wolfgang Haak, David Reich, David Schlessinger, Francesco Cucca, Johannes Krause, John Novembre
Published 2020-02-01

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

by Benjamin F. Voight, Hyun Min Kang, Jun Ding, Cameron D. Palmer, Carlo Sidore, Peter S. Chines, Noël P. Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M. Frayling, Iris M. Heid, Anne U. Jackson, Toby Johnson, Tuomas O. Kilpeläinen, Cecilia M. Lindgren, Andrew P. Morris, Inga Prokopenko, Joshua C. Randall, Richa Saxena, Nicole Soranzo, Elizabeth K. Speliotes, Tanya M. Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, N. William Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J. F. Loos, Sekar Kathiresan, Patricia B. Munroe, Christopher Newton-Cheh, Arne Pfeufer, Nilesh J. Samani, Heribert Schunkert, Joel N. Hirschhorn, David Altshuler, Mark I. McCarthy, Gonçalo R. Abecasis, Michael Boehnke
Published 2013-04-01

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.

by Benjamin F Voight, Hyun Min Kang, Jun Ding, Cameron D Palmer, Carlo Sidore, Peter S Chines, Noël P Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M Frayling, Iris M Heid, Anne U Jackson, Toby Johnson, Tuomas O Kilpeläinen, Cecilia M Lindgren, Andrew P Morris, Inga Prokopenko, Joshua C Randall, Richa Saxena, Nicole Soranzo, Elizabeth K Speliotes, Tanya M Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, N William Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J F Loos, Sekar Kathiresan, Patricia B Munroe, Christopher Newton-Cheh, Arne Pfeufer, Nilesh J Samani, Heribert Schunkert, Joel N Hirschhorn, David Altshuler, Mark I McCarthy, Gonçalo R Abecasis, Michael Boehnke
Published 2012-01-01

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

by Benjamin F. Voight, Hyun Min Kang, Jun Ding, Cameron D. Palmer, Carlo Sidore, Peter S. Chines, Noël P. Burtt, Christian Fuchsberger, Yanming Li, Jeanette Erdmann, Timothy M. Frayling, Iris M. Heid, Anne U. Jackson, Toby Johnson, Tuomas O. Kilpeläinen, Cecilia M. Lindgren, Andrew P. Morris, Inga Prokopenko, Joshua C. Randall, Richa Saxena, Nicole Soranzo, Elizabeth K. Speliotes, Tanya M. Teslovich, Eleanor Wheeler, Jared Maguire, Melissa Parkin, Simon Potter, N. William Rayner, Neil Robertson, Kathleen Stirrups, Wendy Winckler, Serena Sanna, Antonella Mulas, Ramaiah Nagaraja, Francesco Cucca, Inês Barroso, Panos Deloukas, Ruth J. F. Loos, Sekar Kathiresan, Patricia B. Munroe, Christopher Newton-Cheh, Arne Pfeufer, Nilesh J. Samani, Heribert Schunkert, Joel N. Hirschhorn, David Altshuler, Mark I. McCarthy, Gonçalo R. Abecasis, Michael Boehnke
Published 2013-04-01

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

by Jingyuan Xie, Lili Liu, Nikol Mladkova, Yifu Li, Hong Ren, Weiming Wang, Zhao Cui, Li Lin, Xiaofan Hu, Xialian Yu, Jing Xu, Gang Liu, Yasar Caliskan, Carlo Sidore, Olivia Balderes, Raphael J. Rosen, Monica Bodria, Francesca Zanoni, Jun Y. Zhang, Priya Krithivasan, Karla Mehl, Maddalena Marasa, Atlas Khan, Fatih Ozay, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Simone Sanna-Cherchi, Matthew G. Sampson, Laura H. Mariani, Agnieszka Perkowska-Ptasinska, Magdalena Durlik, Krzysztof Mucha, Barbara Moszczuk, Bartosz Foroncewicz, Leszek Pączek, Ireneusz Habura, Elisabet Ars, Jose Ballarin, Laila-Yasmin Mani, Bruno Vogt, Savas Ozturk, Abdülmecit Yildiz, Nurhan Seyahi, Hakki Arikan, Mehmet Koc, Taner Basturk, Gonca Karahan, Sebahat Usta Akgul, Mehmet Sukru Sever, Dan Zhang, Domenico Santoro, Mario Bonomini, Francesco Londrino, Loreto Gesualdo, Jana Reiterova, Vladimir Tesar, Claudia Izzi, Silvana Savoldi, Donatella Spotti, Carmelita Marcantoni, Piergiorgio Messa, Marco Galliani, Dario Roccatello, Simona Granata, Gianluigi Zaza, Francesca Lugani, GianMarco Ghiggeri, Isabella Pisani, Landino Allegri, Ben Sprangers, Jin-Ho Park, BeLong Cho, Yon Su Kim, Dong Ki Kim, Hitoshi Suzuki, Antonio Amoroso, Daniel C. Cattran, Fernando C. Fervenza, Antonello Pani, Patrick Hamilton, Shelly Harris, Sanjana Gupta, Chris Cheshire, Stephanie Dufek, Naomi Issler, Ruth J. Pepper, John Connolly, Stephen Powis, Detlef Bockenhauer, Horia C. Stanescu, Neil Ashman, Ruth J. F. Loos, Eimear E. Kenny, Matthias Wuttke, Kai-Uwe Eckardt, Anna Köttgen, Julia M. Hofstra, Marieke J. H. Coenen, Lambertus A. Kiemeney, Shreeram Akilesh, Matthias Kretzler, Lawrence H. Beck, Benedicte Stengel, Hanna Debiec, Pierre Ronco, Jack F. M. Wetzels, Magdalena Zoledziewska, Francesco Cucca, Iuliana Ionita-Laza, Hajeong Lee, Elion Hoxha, Rolf A. K. Stahl, Paul Brenchley, Francesco Scolari, Ming-hui Zhao, Ali G. Gharavi, Robert Kleta, Nan Chen, Krzysztof Kiryluk
Published 2020-03-01

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

by Jonas B. Nielsen, Oren Rom, Ida Surakka, Sarah E. Graham, Wei Zhou, Tanmoy Roychowdhury, Lars G. Fritsche, Sarah A. Gagliano Taliun, Carlo Sidore, Yuhao Liu, Maiken E. Gabrielsen, Anne Heidi Skogholt, Brooke Wolford, William Overton, Ying Zhao, Jin Chen, He Zhang, Whitney E. Hornsby, Akua Acheampong, Austen Grooms, Amanda Schaefer, Gregory J. M. Zajac, Luis Villacorta, Jifeng Zhang, Ben Brumpton, Mari Løset, Vivek Rai, Pia R. Lundegaard, Morten S. Olesen, Kent D. Taylor, Nicholette D. Palmer, Yii-Der Chen, Seung H. Choi, Steven A. Lubitz, Patrick T. Ellinor, Kathleen C. Barnes, Michelle Daya, Nicholas Rafaels, Scott T. Weiss, Jessica Lasky-Su, Russell P. Tracy, Ramachandran S. Vasan, L. Adrienne Cupples, Rasika A. Mathias, Lisa R. Yanek, Lewis C. Becker, Patricia A. Peyser, Lawrence F. Bielak, Jennifer A. Smith, Stella Aslibekyan, Bertha A. Hidalgo, Donna K. Arnett, Marguerite R. Irvin, James G. Wilson, Solomon K. Musani, Adolfo Correa, Stephen S. Rich, Xiuqing Guo, Jerome I. Rotter, Barbara A. Konkle, Jill M. Johnsen, Allison E. Ashley-Koch, Marilyn J. Telen, Vivien A. Sheehan, John Blangero, Joanne E. Curran, Juan M. Peralta, Courtney Montgomery, Wayne H-H Sheu, Ren-Hua Chung, Karen Schwander, Seyed M. Nouraie, Victor R. Gordeuk, Yingze Zhang, Charles Kooperberg, Alexander P. Reiner, Rebecca D. Jackson, Eugene R. Bleecker, Deborah A. Meyers, Xingnan Li, Sayantan Das, Ketian Yu, Jonathon LeFaive, Albert Smith, Tom Blackwell, Daniel Taliun, Sebastian Zollner, Lukas Forer, Sebastian Schoenherr, Christian Fuchsberger, Anita Pandit, Matthew Zawistowski, Sachin Kheterpal, Chad M. Brummett, Pradeep Natarajan, David Schlessinger, Seunggeun Lee, Hyun Min Kang, Francesco Cucca, Oddgeir L. Holmen, Bjørn O. Åsvold, Michael Boehnke, Sekar Kathiresan, Goncalo R. Abecasis, Y. Eugene Chen, Cristen J. Willer, Kristian Hveem
Published 2020-12-01