Search Results - "Taylor Tavares, A L"

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features by Robbe, Pauline, Ridout, Kate E., Vavoulis, Dimitrios V., Dréau, Helene, Kinnersley, Ben, Denny, Nicholas, Chubb, Daniel, Appleby, Niamh, Cutts, Anthony, Cornish, Alex J., Lopez-Pascua, Laura, Clifford, Ruth, Burns, Adam, Stamatopoulos, Basile, Cabes, Maite, Alsolami, Reem, Antoniou, Pavlos, Oates, Melanie, Cavalieri, Doriane, Gibson, Jane, Prabhu, Anika V., Schwessinger, Ron, Jennings, Daisy, James, Terena, Maheswari, Uma, Duran-Ferrer, Martí, Carninci, Piero, Knight, Samantha J. L., Månsson, Robert, Hughes, Jim, Davies, James, Ross, Mark, Bentley, David, Strefford, Jonathan C., Devereux, Stephen, Pettitt, Andrew R., Hillmen, Peter, Caulfield, Mark J., Houlston, Richard S., Martín-Subero, José I., Schuh, Anna

“…The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome…”
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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update by McGuigan, Anthony, Whitworth, James, Andreou, Avgi, Hearn, Timothy, Tischkowitz, Marc, Maher, Eamonn R

“…Multi-locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility…”
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study by Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman, Shamima, Chinnery, Patrick F

“…To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Cohort study. National Health…”
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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis by Shoemark, Amelia, Griffin, Helen, Wheway, Gabrielle, Hogg, Claire, Lucas, Jane S, Camps, Carme, Taylor, Jenny, Carroll, Mary, Loebinger, Michael R, Chalmers, James D, Morris-Rosendahl, Deborah, Mitchison, Hannah M, De Soyza, Anthony, Brown, D, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M

“…Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a well-recognised genetic cause is…”
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Prevalence and significance of DDX41 gene variants in the general population by Cheloor Kovilakam, Sruthi, Gu, Muxin, Dunn, William G., Marando, Ludovica, Barcena, Clea, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Nik-Zainal, Serena, Mohorianu, Irina, Kar, Siddhartha P., Fabre, Margarete A., Quiros, Pedro M., Vassiliou, George S.

“…•We mapped DDX41 germ line variants in 454 792 volunteers and defined the risk of MDS/AML development associated with different variant types.•DDX41-mutant…”
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders by Rowlands, Charlie, Thomas, Huw B., Lord, Jenny, Wai, Htoo A., Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis, Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O’Callaghan, Christopher, Hirst, Robert A., Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R., Douglas, Andrew G. L., O’Keefe, Raymond T., Newman, William G., Baralle, Diana, Black, Graeme C. M., Ellingford, Jamie M.

“…The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed…”
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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer by Trotman, Jamie, Armstrong, Ruth, Firth, Helen, Trayers, Claire, Watkins, James, Allinson, Kieren, Jacques, Thomas S., Nicholson, James C., Burke, G. A. Amos, Behjati, Sam, Murray, Matthew J., Hook, Catherine E., Tarpey, Patrick

“…Background Whole-genome sequencing (WGS) of cancers is becoming an accepted component of oncological care, and NHS England is currently rolling out WGS for all…”
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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease by Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A E, Cheng, Yurong, Dufour, Inès, Schiano, Guglielmo, Mabillard, Holly, Pasqualetto, Elena, Hofmann, Patrick, Fuster, Daniel G, Kistler, Andreas D, Wilson, Ian J, Kmoch, Stanislav, Raymond, Laure, Robert, Thomas, Eckardt, Kai-Uwe, Bleyer, Sr, Anthony J, Köttgen, Anna, Conlon, Peter J, Wiesener, Michael, Sayer, John A, Rampoldi, Luca, Devuyst, Olivier

“…The kidney-specific gene encodes for uromodulin, the most abundant protein excreted in normal urine. Rare large-effect variants in cause autosomal dominant…”
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Origins and impact of extrachromosomal DNA by Bailey, Chris, Pich, Oriol, Thol, Kerstin, Watkins, Thomas B. K., Luebeck, Jens, Rowan, Andrew, Stavrou, Georgia, Weiser, Natasha E., Dameracharla, Bhargavi, Bentham, Robert, Lu, Wei-Ting, Kittel, Jeanette, Yang, S. Y. Cindy, Howitt, Brooke E., Sharma, Natasha, Litovchenko, Maria, Salgado, Roberto, Hung, King L., Cornish, Alex J., Moore, David A., Houlston, Richard S., Bafna, Vineet, Chang, Howard Y., Nik-Zainal, Serena, Kanu, Nnennaya, McGranahan, Nicholas, Flanagan, Adrienne M., Mischel, Paul S., Jamal-Hanjani, Mariam, Swanton, Charles

“…Extrachromosomal DNA (ecDNA) is a major contributor to treatment resistance and poor outcome for patients with cancer 1 , 2 . Here we examine the diversity of…”
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 by Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C

“…Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as…”
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision by Chrystal, Paul W., Lambacher, Nils J., Doucette, Lance P., Bellingham, James, Schiff, Elena R., Noel, Nicole C. L., Li, Chunmei, Tsiropoulou, Sofia, Casey, Geoffrey A., Zhai, Yi, Nadolski, Nathan J., Majumder, Mohammed H., Tagoe, Julia, D’Esposito, Fabiana, Cordeiro, Maria Francesca, Downes, Susan, Clayton-Smith, Jill, Ellingford, Jamie, Mahroo, Omar A., Hocking, Jennifer C., Cheetham, Michael E., Webster, Andrew R., Jansen, Gert, Blacque, Oliver E., Allison, W. Ted, Au, Ping Yee Billie, MacDonald, Ian M., Arno, Gavin, Leroux, Michel R.

“…Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction…”
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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders by Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M

“…Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while…”
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project by Seaby, Eleanor G., Thomas, N. Simon, Webb, Amy, Brittain, Helen, Taylor Tavares, Ana Lisa, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah

“…Background Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene…”
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A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project by Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.

“…The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo…”
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Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features by Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn

“…In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy. In total, 5 affected…”
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping by Sanjaya, Prima, Maljanen, Katri, Katainen, Riku, Waszak, Sebastian M, Aaltonen, Lauri A, Stegle, Oliver, Korbel, Jan O, Pitkänen, Esa

“…Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only…”
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A novel likely pathogenic CLCN5 variant in Dent’s disease by Hayward, S, Norton, J, Bownass, L, Platt, C, Ambrose, J. C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C. R, Brittain, H, Brown, M. A, Caulfield, M. J, Chan, G. C, Giess, A, Griffin, J. N, Hamblin, A, Henderson, S, Hubbard, T. J. P, Jackson, R, Jones, L. J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S. E. A, Leong, I. U. S, Lopez, F. J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A. C, O'Donovan, P, Odhams, C. A, Patch, C, Perez-Gil, D, Pereira, M. B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R. H, Siddiq, A, Sieghart, A, Smith, S. C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A. L, Thomas, E. R. A, Thompson, S. R, Tucci, A, Welland, M. J, Williams, E, Witkowska, K, Wood, S. M, Zarowiecki, M

“…Abstract Background The majority of cases of Dent’s disease are caused by pathogenic variants in the CLCN5 gene, which encodes a voltage-gated chloride ion…”
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The genomic landscape of familial glioma by Choi, Dong-Joo, Armstrong, Georgina, Lozzi, Brittney, Vijayaraghavan, Prashanth, Plon, Sharon E, Wong, Terence C, Boerwinkle, Eric, Muzny, Donna M, Chen, Hsiao-Chi, Gibbs, Richard A, Ostrom, Quinn T, Melin, Beatrice, Deneen, Benjamin, Bondy, Melissa L, Bainbridge, Matthew N, Amos, Christopher I, Barnholtz-Sloan, Jill S, Bernstein, Jonine L, Claus, Elizabeth B, Houlston, Richard S, Il'yasova, Dora, Jenkins, Robert B, Johansen, Christoffer, Lachance, Daniel, Lai, Rose, Melin, Beatrice S, Merrell, Ryan T, Olson, Sara H, Sadetzki, Siegal, Schildkraut, Joellen, Shete, Sanjay, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Brown, M A, Caulfield, M J, Chan, G C, Giess, A, Griffin, J N, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O'Donovan, P, Odhams, C A, Patch, C, Perez-Gil, D, Pereira, M B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M

“…Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately…”
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Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population by Lam, Tanya, Rocca, Clarissa, Ibanez, Kristina, Dalmia, Anupriya, Tallman, Samuel, Hadjivassiliou, Marios, Hensiek, Anke, Nemeth, Andrea, Facchini, Stefano, Wood, Nicholas, Cortese, Andrea, Houlden, Henry, Tucci, Arianna

“…Abstract Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar…”
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach by Best, Sunayna, Yu, Jing, Lord, Jenny, Roche, Matthew, Watson, Christopher Mark, Bevers, Roel P J, Stuckey, Alex, Madhusudhan, Savita, Jewell, Rosalyn, Sisodiya, Sanjay M, Lin, Siying, Turner, Stephen, Robinson, Hannah, Leslie, Joseph S, Baple, Emma, Toomes, Carmel, Inglehearn, Chris, Wheway, Gabrielle, Johnson, Colin A

“…The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual…”
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