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

“…Conclusions Our results showed that rare disease patients, especially ones affected by neurology and neurodevelopmental disorders, in the Genomics England cohort had increased risk of COVID-19 related death during the first wave of the pandemic in UK. …”
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Prognostic determinants in cancer survival: a multidimensional evaluation of clinical and genetic factors across 10 cancer types in the participants of Genomics England’s 100,000 Genomes Project by Jurgita Gammall, Alvina G. Lai

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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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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

“…Methods We first analysed whole-genome sequencing data of 143 parent–offspring trios from Genomics England 100,000 Genomes Project. We used gene panel testing and a phenotype-based, variant prioritisation framework called Exomiser to identify candidate genes in trios. …”
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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

“…Mining of candidate cis-regulatory UCNEs in WGS data derived from the rare eye disease cohort of Genomics England reveals 178 ultrarare variants within 84 UCNEs associated with 29 disease genes. …”
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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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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

“…We used a gene pathogenicity scoring system (GenePy) and a genotype-to-phenotype approach on individuals recruited to the UK Genomics England (GEL) 100,000 Genomes Project (100kGP) (n = 78,050). …”
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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

“…Using the Genomics England/Genomic Medicine Centres (GE/GMC) diagnostic pipeline, 13 unrelated families were solved (13/78, 17%). …”
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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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Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion by Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby

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