ReliableGenome: annotation of genomic regions with high/low variant calling concordance

por Popitsch, Niko, Schuh, Anna, Taylor, Jenny C
Publicado 2017

GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

por Giacopuzzi, Edoardo, Popitsch, Niko, Taylor, Jenny C
Publicado 2022

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data

por Vavoulis, Dimitrios V, Taylor, Jenny C, Schuh, Anna
Publicado 2017

A high throughput screen for active human transposable elements

por Kvikstad, Erika M., Piazza, Paolo, Taylor, Jenny C., Lunter, Gerton
Publicado 2018

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data

por Vavoulis, Dimitrios V, Cutts, Anthony, Taylor, Jenny C, Schuh, Anna
Publicado 2020

Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

por Dixon, Padraig, Keeney, Edna, Taylor, Jenny C., Wordsworth, Sarah, Martin, Richard M.
Publicado 2022

MichelaNglo: sculpting protein views on web pages without coding

por Ferla, Matteo P, Pagnamenta, Alistair T, Damerell, David, Taylor, Jenny C, Marsden, Brian D
Publicado 2020

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation

por Ferla, Matteo P., Pagnamenta, Alistair T., Koukouflis, Leonidas, Taylor, Jenny C., Marsden, Brian D.
Publicado 2022

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

por Mackley, Michael P, Blair, Edward, Parker, Michael, Taylor, Jenny C, Watkins, Hugh, Ormondroyd, Elizabeth
Publicado 2018

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

por Wells, Dagan, Kaur, Kulvinder, Grifo, Jamie, Glassner, Michael, Taylor, Jenny C, Fragouli, Elpida, Munne, Santiago
Publicado 2014

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods

por Shields, Adrian M., Pagnamenta, Alistair T., Pollard, Andrew J., Taylor, Jenny C., Allroggen, Holger, Patel, Smita Y.
Publicado 2019

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

por Buchanan, James, Blair, Edward, Thomson, Kate L., Ormondroyd, Elizabeth, Watkins, Hugh, Taylor, Jenny C., Wordsworth, Sarah
Publicado 2019

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

por Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
Publicado 2017

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

por Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Publicado 2016

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th...

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Judith, Knight, Julian C, Taylor, Jenny C, Taylor, John, Watkins, Hugh
Publicado 2017

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

por Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Publicado 2018

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing

por Stevenson, Mark, Pagnamenta, Alistair T, Mack, Heather G, Savige, Judith, Giacopuzzi, Edoardo, Lines, Kate E, Taylor, Jenny C, Thakker, Rajesh V
Publicado 2022

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

por Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Publicado 2016

An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities

por Palles, Claire, Fotheringham, Susan, Chegwidden, Laura, Lucas, Marie, Kerr, Rachel, Mozolowski, Guy, Rosmarin, Dan, Taylor, Jenny C., Tomlinson, Ian, Kerr, David
Publicado 2021

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

por Ormondroyd, Elizabeth, Mackley, Michael P, Blair, Edward, Craft, Jude, Knight, Julian C, Taylor, John, Taylor, Jenny C, Wilkie, Andrew OM, Watkins, Hugh
Publicado 2017