Search Results - "Soranzo, Nicole"

The impact of rare and low-frequency genetic variants in common disease by Bomba, Lorenzo, Walter, Klaudia, Soranzo, Nicole

“…Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted…”
Get full text

Genetic architecture: the shape of the genetic contribution to human traits and disease by Timpson, Nicholas J., Greenwood, Celia M. T., Soranzo, Nicole, Lawson, Daniel J., Richards, J. Brent

“…Key Points The genetic architecture of common diseases is central to the scientific and clinical goals of human genetics because it directly impacts biology,…”
Get full text

Genetic Determinants of Variability in Glycated Hemoglobin (HbA1c) in Humans: Review of Recent Progress and Prospects for Use in Diabetes Care by Soranzo, Nicole

“…Glycated hemoglobin A 1c (HbA 1c ) indicates the percentage of total hemoglobin that is bound by glucose, produced from the nonenzymatic chemical modification…”
Get full text

Personalized and graph genomes reveal missing signal in epigenomic data by Groza, Cristian, Kwan, Tony, Soranzo, Nicole, Pastinen, Tomi, Bourque, Guillaume

“…Epigenomic studies that use next generation sequencing experiments typically rely on the alignment of reads to a reference sequence. However, because of…”
Get full text

A general approach for haplotype phasing across the full spectrum of relatedness by O'Connell, Jared, Gurdasani, Deepti, Delaneau, Olivier, Pirastu, Nicola, Ulivi, Sheila, Cocca, Massimiliano, Traglia, Michela, Huang, Jie, Huffman, Jennifer E, Rudan, Igor, McQuillan, Ruth, Fraser, Ross M, Campbell, Harry, Polasek, Ozren, Asiki, Gershim, Ekoru, Kenneth, Hayward, Caroline, Wright, Alan F, Vitart, Veronique, Navarro, Pau, Zagury, Jean-Francois, Wilson, James F, Toniolo, Daniela, Gasparini, Paolo, Soranzo, Nicole, Sandhu, Manjinder S, Marchini, Jonathan

“…Many existing cohorts contain a range of relatedness between genotyped individuals, either by design or by chance. Haplotype estimation in such cohorts is a…”
Get full text

Mapping cis- and trans-regulatory effects across multiple tissues in twins by Grundberg, Elin, Small, Kerrin S, Hedman, Åsa K, Nica, Alexandra C, Buil, Alfonso, Keildson, Sarah, Bell, Jordana T, Yang, Tsun-Po, Meduri, Eshwar, Barrett, Amy, Nisbett, James, Sekowska, Magdalena, Wilk, Alicja, Shin, So-Youn, Glass, Daniel, Travers, Mary, Min, Josine L, Ring, Sue, Ho, Karen, Thorleifsson, Gudmar, Kong, Augustine, Thorsteindottir, Unnur, Ainali, Chrysanthi, Dimas, Antigone S, Hassanali, Neelam, Ingle, Catherine, Knowles, David, Krestyaninova, Maria, Lowe, Christopher E, Di Meglio, Paola, Montgomery, Stephen B, Parts, Leopold, Potter, Simon, Surdulescu, Gabriela, Tsaprouni, Loukia, Tsoka, Sophia, Bataille, Veronique, Durbin, Richard, Nestle, Frank O, O'Rahilly, Stephen, Soranzo, Nicole, Lindgren, Cecilia M, Zondervan, Krina T, Ahmadi, Kourosh R, Schadt, Eric E, Stefansson, Kari, Smith, George Davey, McCarthy, Mark I, Deloukas, Panos, Dermitzakis, Emmanouil T, Spector, Tim D

“…The MuTHER Consortium reports an analysis of the genetics of gene expression in three tissues from approximately 850 mono- and dizygotic twins. They…”
Get full text

Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming by Moreau, Thomas, Evans, Amanda L., Vasquez, Louella, Tijssen, Marloes R., Yan, Ying, Trotter, Matthew W., Howard, Daniel, Colzani, Maria, Arumugam, Meera, Wu, Wing Han, Dalby, Amanda, Lampela, Riina, Bouet, Guenaelle, Hobbs, Catherine M., Pask, Dean C., Payne, Holly, Ponomaryov, Tatyana, Brill, Alexander, Soranzo, Nicole, Ouwehand, Willem H., Pedersen, Roger A., Ghevaert, Cedric

“…The production of megakaryocytes (MKs)—the precursors of blood platelets—from human pluripotent stem cells (hPSCs) offers exciting clinical opportunities for…”
Get full text

Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements by Grundberg, Elin, Meduri, Eshwar, Sandling, Johanna K., Hedman, Åsa K., Keildson, Sarah, Buil, Alfonso, Busche, Stephan, Yuan, Wei, Nisbet, James, Sekowska, Magdalena, Wilk, Alicja, Barrett, Amy, Small, Kerrin S., Ge, Bing, Caron, Maxime, Shin, So-Youn, Ahmadi, Kourosh R., Ainali, Chrysanthi, Barrett, Amy, Bataille, Veronique, Bell, Jordana T., Buil, Alfonso, Deloukas, Panos, Dermitzakis, Emmanouil T., Dimas, Antigone S., Durbin, Richard, Glass, Daniel, Grundberg, Elin, Hassanali, Neelam, Hedman, Åsa K., Ingle, Catherine, Knowles, David, Krestyaninova, Maria, Lindgren, Cecilia M., Lowe, Christopher E., McCarthy, Mark I., Meduri, Eshwar, di Meglio, Paola, Min, Josine L., Montgomery, Stephen B., Nestle, Frank O., Nica, Alexandra C., Nisbet, James, O’Rahilly, Stephen, Parts, Leopold, Potter, Simon, Sandling, Johanna, Sekowska, Magdalena, Shin, So-Youn, Small, Kerrin S., Soranzo, Nicole, Spector, Tim D., Surdulescu, Gabriela, Travers, Mary E., Tsaprouni, Loukia, Tsoka, Sophia, Wilk, Alicja, Yang, Tsun-Po, Zondervan, Krina T., Lathrop, Mark, Dermitzakis, Emmanouil T., McCarthy, Mark I., Spector, Timothy D., Bell, Jordana T., Deloukas, Panos

“…Epigenetic modifications such as DNA methylation play a key role in gene regulation and disease susceptibility. However, little is known about the genome-wide…”
Get full text

Biomarkers for Type 2 Diabetes and Impaired Fasting Glucose Using a Nontargeted Metabolomics Approach by MENNI, Cristina, FAUMAN, Eric, WEI YUAN, MILBURN, Mike, PALMER, Colin N. A, FRAYLING, Timothy M, TRIMMER, Jeff, BELL, Jordana T, GIEGER, Christian, MOHNEY, Rob P, BROSNAN, Mary Julia, SUHRE, Karsten, ERTE, Idil, SORANZO, Nicole, SPECTOR, Tim D, PERRY, John R. B, KASTENMÜLLER, Gabi, SHIN, So-Youn, PETERSEN, Ann-Kristin, HYDE, Craig, PSATHA, Maria, WARD, Kirsten J

“…Using a nontargeted metabolomics approach of 447 fasting plasma metabolites, we searched for novel molecular markers that arise before and after hyperglycemia…”
Get full text

Human serum metabolic profiles are age dependent by Yu, Zhonghao, Zhai, Guangju, Singmann, Paula, He, Ying, Xu, Tao, Prehn, Cornelia, Römisch‐Margl, Werner, Lattka, Eva, Gieger, Christian, Soranzo, Nicole, Heinrich, Joachim, Standl, Marie, Thiering, Elisabeth, Mittelstraß, Kirstin, Wichmann, Heinz‐Erich, Peters, Annette, Suhre, Karsten, Li, Yixue, Adamski, Jerzy, Spector, Tim D., Illig, Thomas, Wang‐Sattler, Rui

“…Summary Understanding the complexity of aging is of utmost importance. This can now be addressed by the novel and powerful approach of metabolomics. However,…”
Get full text

A genome-wide perspective of genetic variation in human metabolism by Suhre, Karsten, Illig, Thomas, Gieger, Christian, Zhai, Guangju, Römisch-Margl, Werner, Wang-Sattler, Rui, Prehn, Cornelia, Altmaier, Elisabeth, Kastenmüller, Gabi, Kato, Bernet S, Mewes, Hans-Werner, Meitinger, Thomas, de Angelis, Martin Hrabé, Kronenberg, Florian, Soranzo, Nicole, Wichmann, H-Erich, Spector, Tim D, Adamski, Jerzy

“…Serum metabolite concentrations provide a direct readout of biological processes in the human body, and they are associated with disorders such as…”
Get full text

A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose by Takeuchi, Fumihiko, McGinnis, Ralph, Bourgeois, Stephane, Barnes, Chris, Eriksson, Niclas, Soranzo, Nicole, Whittaker, Pamela, Ranganath, Venkatesh, Kumanduri, Vasudev, McLaren, William, Holm, Lennart, Lindh, Jonatan, Rane, Anders, Wadelius, Mia, Deloukas, Panos

“…We report the first genome-wide association study (GWAS) whose sample size (1,053 Swedish subjects) is sufficiently powered to detect genome-wide significance…”
Get full text

Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms by Yet, Idil, Menni, Cristina, Shin, So-Youn, Mangino, Massimo, Soranzo, Nicole, Adamski, Jerzy, Suhre, Karsten, Spector, Tim D, Kastenmüller, Gabi, Bell, Jordana T

“…Metabolomic profiling is a powerful approach to characterize human metabolism and help understand common disease risk. Although multiple high-throughput…”
Get full text

Increased DNA methylation variability in type 1 diabetes across three immune effector cell types by Paul, Dirk S., Teschendorff, Andrew E., Dang, Mary A.N., Lowe, Robert, Hawa, Mohammed I., Ecker, Simone, Beyan, Huriya, Cunningham, Stephanie, Fouts, Alexandra R., Ramelius, Anita, Burden, Frances, Farrow, Samantha, Rowlston, Sophia, Rehnstrom, Karola, Frontini, Mattia, Downes, Kate, Busche, Stephan, Cheung, Warren A., Ge, Bing, Simon, Marie-Michelle, Bujold, David, Kwan, Tony, Bourque, Guillaume, Datta, Avik, Lowy, Ernesto, Clarke, Laura, Flicek, Paul, Libertini, Emanuele, Heath, Simon, Gut, Marta, Gut, Ivo G, Ouwehand, Willem H., Pastinen, Tomi, Soranzo, Nicole, Hofer, Sabine E., Karges, Beate, Meissner, Thomas, Boehm, Bernhard O., Cilio, Corrado, Elding Larsson, Helena, Lernmark, Åke, Steck, Andrea K., Rakyan, Vardhman K., Beck, Stephan, Leslie, R. David

“…The incidence of type 1 diabetes (T1D) has substantially increased over the past decade, suggesting a role for non-genetic factors such as epigenetic…”
Get full text

Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways by SORANZO, Nicole, SANNA, Serena, SANDHU, Manjinder S, HEENEY, Matthew M, DEVANEY, Joseph M, REILLY, Muredach P, RICKETTS, Sally L, WHEELER, Eleanor, GIEGER, Christian, RAKE, Dörte, DUPUIS, Josée, BOUATIA-NAJI, Nabila, LANGENBERG, Claudia, PROKOPENKO, Inga, STOLERMAN, Elliot

“…OBJECTIVE Glycated hemoglobin (HbA1c), used to monitor and diagnose diabetes, is influenced by average glycemia over a 2- to 3-month period. Genetic factors…”
Get full text

Functional interpretation of non-coding sequence variation: Concepts and challenges by Paul, Dirk S., Soranzo, Nicole, Beck, Stephan

“…Understanding the functional mechanisms underlying genetic signals associated with complex traits and common diseases, such as cancer, diabetes and Alzheimer's…”
Get full text

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study by Nica, Alexandra C, Parts, Leopold, Glass, Daniel, Nisbet, James, Barrett, Amy, Sekowska, Magdalena, Travers, Mary, Potter, Simon, Grundberg, Elin, Small, Kerrin, Hedman, Asa K, Bataille, Veronique, Tzenova Bell, Jordana, Surdulescu, Gabriela, Dimas, Antigone S, Ingle, Catherine, Nestle, Frank O, di Meglio, Paola, Min, Josine L, Wilk, Alicja, Hammond, Christopher J, Hassanali, Neelam, Yang, Tsun-Po, Montgomery, Stephen B, O'Rahilly, Steve, Lindgren, Cecilia M, Zondervan, Krina T, Soranzo, Nicole, Barroso, Inês, Durbin, Richard, Ahmadi, Kourosh, Deloukas, Panos, McCarthy, Mark I, Dermitzakis, Emmanouil T, Spector, Timothy D

“…While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not…”
Get full text

Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types by Ecker, Simone, Chen, Lu, Pancaldi, Vera, Bagger, Frederik O, Fernández, José María, Carrillo de Santa Pau, Enrique, Juan, David, Mann, Alice L, Watt, Stephen, Casale, Francesco Paolo, Sidiropoulos, Nikos, Rapin, Nicolas, Merkel, Angelika, Stunnenberg, Hendrik G, Stegle, Oliver, Frontini, Mattia, Downes, Kate, Pastinen, Tomi, Kuijpers, Taco W, Rico, Daniel, Valencia, Alfonso, Beck, Stephan, Soranzo, Nicole, Paul, Dirk S

“…A healthy immune system requires immune cells that adapt rapidly to environmental challenges. This phenotypic plasticity can be mediated by transcriptional and…”
Get full text

The end of the start for population sequencing by Birney, Ewan, Soranzo, Nicole

“…In the final phase of a seven-year project, the genomes of 2,504 people across five continental regions have been sequenced. The result is a compendium of…”
Get full text

JAK2V617F leads to intrinsic changes in platelet formation and reactivity in a knock-in mouse model of essential thrombocythemia by Hobbs, Catherine M., Manning, Harriet, Bennett, Cavan, Vasquez, Louella, Severin, Sonia, Brain, Lauren, Mazharian, Alexandra, Guerrero, Jose A., Li, Juan, Soranzo, Nicole, Green, Anthony R., Watson, Steve P., Ghevaert, Cedric

“…The principal morbidity and mortality in patients with essential thrombocythemia (ET) and polycythemia rubra vera (PV) stems from thrombotic events. Most…”
Get full text