A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes by Ekaterina Lyulcheva-Bennett, Genomics England Research Consortium, Daimark Bennett

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Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project by Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium

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Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project by Yuguo Wei, Nikolaos Papachristou, Stefanie Mueller, Genomics England Research Consortium, Wai Hoong Chang, Alvina G. Lai

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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome by Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige

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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies by Nirmal Vadgama, Mohamed Ameen, Laksshman Sundaram, Sadhana Gaddam, Genomics England Research Consortium, Casey Gifford, Jamal Nasir, Ioannis Karakikes

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Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project by Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie, Honghan Wu, Genomics England Research Consortium

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A novel likely pathogenic CLCN5 variant in Dent’s disease by S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon

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Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci by Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

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Author Correction: Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci by Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

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Validation of clinical‐grade whole genome sequencing reproduces cytogenetic analysis and identifies mutational landscape in newly‐diagnosed multiple myeloma patients: A pilot study... by Oliver C. Lomas, Sarah Gooding, Maite Cabes, Helene Dreau, Edward Wilson, Paolo Polzella, Genomics England Research Consortium, Karthik Ramasamy, Angela D. Hamblin

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Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma by Christine L. Jones, Andrea Degasperi, Vieri Grandi, Tauanne D. Amarante, Genomics England Research Consortium, Tracey J. Mitchell, Serena Nik-Zainal, Sean J. Whittaker

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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping by Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Genomics England Research Consortium, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen

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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project) by Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis

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Late diagnoses of Dravet syndrome: How many individuals are we missing? by Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium, Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya

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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project by Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee

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FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions by Philippa C. May, Alistair G. Reid, Mark E. Robinson, Jamshid S. Khorashad, Dragana Milojkovic, Simone Claudiani, Genomics England Research Consortium, Fenella Willis, Jane F. Apperley, Andrew J. Innes

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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation by Ragoussis, V, Pagnamenta, AT, Haines, RL, Giacopuzzi, E, McClatchey, MA, Sampson, JR, Suri, M, Gardham, A, Cobben, J-M, Osio, D, Fry, AE, Genomics England Research Consortium, Taylor, JC

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans by Wei, W, Pagnamenta, AT, Gleadall, N, Sanchis-Juan, A, Stephens, J, Broxholme, J, Tuna, S, Odhams, CA, Genomics England Research Consortium, NIHR BioResource, Fratter, C, Turro, E, Caulfield, MJ, Taylor, JC, Rahman, S, Chinnery, PF

POS-421 KIDNEYNETWORK: A NEW METHOD TO PREDICT KIDNEY DISEASE GENES USING KIDNEY DERIVED GENE EXPRESSION DATA IDENTIFIES A NEW CANDIDATE GENE FOR MILD ADPKD / PCLD by F. Boulogne, L. CLAUS, H. Wiersma, F. Schukking, N. de Klein, S. Li, H.J. Westra, U.K. Genomics England Research Consortium, P. Deelen, N.V.A.M. Knoers, A.M. van Eerde, L. Franke

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SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds by Nirmal Vadgama, Nirmal Vadgama, Alexander Kreymerman, Alexander Kreymerman, Jackie Campbell, Olga Shamardina, Christiane Brugger, Genomics England Research Consortium, Alexandra M. Deaconescu, Richard T. Lee, Christopher J. Penkett, Casey A. Gifford, Mark Mercola, Jamal Nasir, Ioannis Karakikes

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