The impact of rare and low-frequency genetic variants in common disease

por Bomba, Lorenzo, Walter, Klaudia, Soranzo, Nicole
Publicado 2017

Some statistical properties of regulatory DNA sequences, and their use in predicting regulatory regions in the Drosophila genome: the fluffy-tail test

por Abnizova, Irina, te Boekhorst, Rene, Walter, Klaudia, Gilks, Walter R
Publicado 2005

Parallel evolution of conserved non-coding elements that target a common set of developmental regulatory genes from worms to humans

por Vavouri, Tanya, Walter, Klaudia, Gilks, Walter R, Lehner, Ben, Elgar, Greg
Publicado 2007

Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies

por Xu, ChangJiang, Tachmazidou, Ioanna, Walter, Klaudia, Ciampi, Antonio, Zeggini, Eleftheria, Greenwood, Celia M T
Publicado 2014

Population‐wide copy number variation calling using variant call format files from 6,898 individuals

por Png, Grace, Suveges, Daniel, Park, Young‐Chan, Walter, Klaudia, Kundu, Kousik, Ntalla, Ioanna, Tsafantakis, Emmanouil, Karaleftheri, Maria, Dedoussis, George, Zeggini, Eleftheria, Gilly, Arthur
Publicado 2019

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

por Chheda, Himanshu, Palta, Priit, Pirinen, Matti, McCarthy, Shane, Walter, Klaudia, Koskinen, Seppo, Salomaa, Veikko, Daly, Mark, Durbin, Richard, Palotie, Aarno, Aittokallio, Tero, Ripatti, Samuli
Publicado 2017

An interactive genome browser of association results from the UK10K cohorts project

por Geihs, Matthias, Yan, Ying, Walter, Klaudia, Huang, Jie, Memari, Yasin, Min, Josine L., Mead, Daniel, Hubbard, Tim J., Timpson, Nicholas J., Down, Thomas A., Soranzo, Nicole
Publicado 2015

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

por Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Publicado 2012

The influence of rare variants in circulating metabolic biomarkers

por Riveros-Mckay, Fernando, Oliver-Williams, Clare, Karthikeyan, Savita, Walter, Klaudia, Kundu, Kousik, Ouwehand, Willem H., Roberts, David, Di Angelantonio, Emanuele, Soranzo, Nicole, Danesh, John, Wheeler, Eleanor, Zeggini, Eleftheria, Butterworth, Adam S., Barroso, Inês
Publicado 2020

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

por Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole
Publicado 2015

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

por Bomba, Lorenzo, Walter, Klaudia, Guo, Qi, Surendran, Praveen, Kundu, Kousik, Nongmaithem, Suraj, Karim, Mohd Anisul, Stewart, Isobel D., Langenberg, Claudia, Danesh, John, Di Angelantonio, Emanuele, Roberts, David J., Ouwehand, Willem H., Dunham, Ian, Butterworth, Adam S., Soranzo, Nicole
Publicado 2022

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride le...

por Sudbery, Ian, Stalker, Jim, Simpson, Jared T, Keane, Thomas, Rust, Alistair G, Hurles, Matthew E, Walter, Klaudia, Lynch, Dee, Teboul, Lydia, Brown, Steve D, Li, Heng, Ning, Zemin, Nadeau, Joseph H, Croniger, Colleen M, Durbin, Richard, Adams, David J
Publicado 2009

Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development

por Woolfe, Adam, Goodson, Martin, Goode, Debbie K, Snell, Phil, McEwen, Gayle K, Vavouri, Tanya, Smith, Sarah F, North, Phil, Callaway, Heather, Kelly, Krys, Walter, Klaudia, Abnizova, Irina, Gilks, Walter, Edwards, Yvonne J. K, Cooke, Julie E, Elgar, Greg
Publicado 2005

Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates

por Goudswaard, Lucy J., Bell, Joshua A., Hughes, David A., Corbin, Laura J., Walter, Klaudia, Davey Smith, George, Soranzo, Nicole, Danesh, John, Di Angelantonio, Emanuele, Ouwehand, Willem H., Watkins, Nicholas A., Roberts, David J., Butterworth, Adam S., Hers, Ingeborg, Timpson, Nicholas J.
Publicado 2021

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

por Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V. R., Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W., Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Publicado 2018

Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

por Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V. R., Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W., Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Publicado 2018

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

por Watt, Stephen, Vasquez, Louella, Walter, Klaudia, Mann, Alice L., Kundu, Kousik, Chen, Lu, Sims, Ying, Ecker, Simone, Burden, Frances, Farrow, Samantha, Farr, Ben, Iotchkova, Valentina, Elding, Heather, Mead, Daniel, Tardaguila, Manuel, Ponstingl, Hannes, Richardson, David, Datta, Avik, Flicek, Paul, Clarke, Laura, Downes, Kate, Pastinen, Tomi, Fraser, Peter, Frontini, Mattia, Javierre, Biola-Maria, Spivakov, Mikhail, Soranzo, Nicole
Publicado 2021

A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

por Akbari, Parsa, Vuckovic, Dragana, Stefanucci, Luca, Jiang, Tao, Kundu, Kousik, Kreuzhuber, Roman, Bao, Erik L., Collins, Janine H., Downes, Kate, Grassi, Luigi, Guerrero, Jose A., Kaptoge, Stephen, Knight, Julian C., Meacham, Stuart, Sambrook, Jennifer, Seyres, Denis, Stegle, Oliver, Verboon, Jeffrey M., Walter, Klaudia, Watkins, Nicholas A., Danesh, John, Roberts, David J., Di Angelantonio, Emanuele, Sankaran, Vijay G., Frontini, Mattia, Burgess, Stephen, Kuijpers, Taco, Peters, James E., Butterworth, Adam S., Ouwehand, Willem H., Soranzo, Nicole, Astle, William J.
Publicado 2023

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2014

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J. Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2015