Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment von Hughes, Jim R, Roberts, Nigel, McGowan, Simon, Hay, Deborah, Giannoulatou, Eleni, Lynch, Magnus, De Gobbi, Marco, Taylor, Stephen, Gibbons, Richard, Higgs, Douglas R

Volltext

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data von Szot, Justin O, Cuny, Hartmut, Blue, Gillian M, Humphreys, David T, Ip, Eddie, Harrison, Katrina, Sholler, Gary F, Giannoulatou, Eleni, Leo, Paul, Duncan, Emma L, Sparrow, Duncan B, Ho, Joshua W K, Graham, Robert M, Pachter, Nicholas, Chapman, Gavin, Winlaw, David S, Dunwoodie, Sally L

Volltext

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease von Blue, Gillian M., MSc, Kirk, Edwin P., MBBS, PhD, Giannoulatou, Eleni, MEng, MPhil, DPhil, Dunwoodie, Sally L., PhD, Ho, Joshua W.K., PhD, Hilton, Desiree C.K., PhD, White, Susan M., MBBS, Sholler, Gary F., MBBS (Hons), Harvey, Richard P., PhD, Winlaw, David S., MBBS, MD

Volltext

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes von Maher, Geoffrey J, Ralph, Hannah K, Ding, Zhihao, Koelling, Nils, Mlcochova, Hana, Giannoulatou, Eleni, Dhami, Pawan, Paul, Dirk S, Stricker, Stefan H, Beck, Stephan, McVean, Gilean, Wilkie, Andrew O M, Goriely, Anne

Volltext

Quantifying negative selection on synonymous variants von Gudkov, Mikhail, Thibaut, Loïc, Giannoulatou, Eleni

Volltext

Early dynamic fate changes in haemogenic endothelium characterized at the single-cell level von Swiers, Gemma, Baumann, Claudia, O’Rourke, John, Giannoulatou, Eleni, Taylor, Stephen, Joshi, Anagha, Moignard, Victoria, Pina, Cristina, Bee, Thomas, Kokkaliaris, Konstantinos D., Yoshimoto, Momoko, Yoder, Mervin C., Frampton, Jon, Schroeder, Timm, Enver, Tariq, Göttgens, Berthold, de Bruijn, Marella F. T. R.

Volltext

dv-trio: a family-based variant calling pipeline using DeepVariant von Ip, Eddie K K, Hadinata, Clinton, Ho, Joshua W K, Giannoulatou, Eleni

Volltext

Multi-omic profiling reveals associations between the gut mucosal microbiome, the metabolome, and host DNA methylation associated gene expression in patients with colorectal cancer von Wang, Qing, Ye, Jianzhong, Fang, Daiqiong, Lv, Longxian, Wu, Wenrui, Shi, Ding, Li, Yating, Yang, Liya, Bian, Xiaoyuan, Wu, Jingjing, Jiang, Xianwan, Wang, Kaicen, Wang, Qiangqiang, Hodson, Mark P, Thibaut, Loïc M, Ho, Joshua W K, Giannoulatou, Eleni, Li, Lanjuan

Volltext

ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data von Gudkov, Mikhail, Thibaut, Loïc, Khushi, Matloob, Blue, Gillian M, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni

Volltext

Dynamics of Transforming Growth Factor (TGF)-β Superfamily Cytokine Induction During HIV-1 Infection Are Distinct From Other Innate Cytokines von Dickinson, Matthew, Kliszczak, Anna E, Giannoulatou, Eleni, Peppa, Dimitra, Pellegrino, Pierre, Williams, Ian, Drakesmith, Hal, Borrow, Persephone

Volltext

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes von Maher, Geoffrey J., McGowan, Simon J., Giannoulatou, Eleni, Verrill, Clare, Goriely, Anne, Wilkie, Andrew O. M.

Volltext

Maternal iron deficiency perturbs embryonic cardiovascular development in mice von Kalisch-Smith, Jacinta I., Ved, Nikita, Szumska, Dorota, Munro, Jacob, Troup, Michael, Harris, Shelley E., Rodriguez-Caro, Helena, Jacquemot, Aimée, Miller, Jack J., Stuart, Eleanor M., Wolna, Magda, Hardman, Emily, Prin, Fabrice, Lana-Elola, Eva, Aoidi, Rifdat, Fisher, Elizabeth M. C., Tybulewicz, Victor L. J., Mohun, Timothy J., Lakhal-Littleton, Samira, De Val, Sarah, Giannoulatou, Eleni, Sparrow, Duncan B.

Volltext

Male-lineage transmission of an acquired metabolic phenotype induced by grand-paternal obesity von Cropley, Jennifer E, Eaton, Sally A, Aiken, Alastair, Young, Paul E, Giannoulatou, Eleni, Ho, Joshua W.K, Buckland, Michael E, Keam, Simon P, Hutvagner, Gyorgy, Humphreys, David T, Langley, Katherine G, Henstridge, Darren C, Martin, David I.K, Febbraio, Mark A, Suter, Catherine M

Volltext

SVPV: a structural variant prediction viewer for paired-end sequencing datasets von Munro, Jacob E, Dunwoodie, Sally L, Giannoulatou, Eleni

Volltext

Verification and validation of bioinformatics software without a gold standard: a case study of BWA and Bowtie von Giannoulatou, Eleni, Park, Shin-Ho, Humphreys, David T, Ho, Joshua W K

Volltext

Distinct patterns of hepcidin and iron regulation during HIV-1, HBV, and HCV infections von Armitage, Andrew E., Stacey, Andrea R., Giannoulatou, Eleni, Marshall, Elizabeth, Sturges, Pamela, Chatha, Kamaljit, Smith, Nicola M. G., Huang, XiaoJie, Xu, XiaoNing, Pasricha, Sant-Rayn, Li, Ning, Wu, Hao, Webster, Craig, Prentice, Andrew M., Pellegrino, Pierre, Williams, Ian, Norris, Phillip J., Drakesmith, Hal, Borrow, Persephone

Volltext

Isogenic mice exhibit sexually-dimorphic DNA methylation patterns across multiple tissues von McCormick, Helen, Young, Paul E, Hur, Suzy S J, Booher, Keith, Chung, Hunter, Cropley, Jennifer E, Giannoulatou, Eleni, Suter, Catherine M

Volltext

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy von Horvat, Claire, Johnson, Renee, Lam, Lien, Munro, Jacob, Mazzarotto, Francesco, Roberts, Angharad M., Herman, Daniel S., Parfenov, Michael, Haghighi, Alireza, McDonough, Barbara, DePalma, Steven R., Keogh, Anne M., Macdonald, Peter S., Hayward, Christopher S., Roberts, Amy, Barton, Paul J.R., Felkin, Leanne E., Giannoulatou, Eleni, Cook, Stuart A., Seidman, J.G., Seidman, Christine E., Fatkin, Diane

Volltext

Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application von Ip, Eddie K K, Troup, Michael, Xu, Colin, Winlaw, David S, Dunwoodie, Sally L, Giannoulatou, Eleni

Volltext

Arterial dissections: Common features and new perspectives von Bax, Monique, Romanov, Valentin, Junday, Keerat, Giannoulatou, Eleni, Martinac, Boris, Kovacic, Jason C, Liu, Renjing, Iismaa, Siiri E, Graham, Robert M

Volltext