Results 31 to 40 of about 10,071,580 (356)
GENCODE: The reference human genome annotation for The ENCODE Project
Genome Research, 2012 The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.J. Harrow, A. Frankish, J. Gonzalez, Electra Tapanari, M. Diekhans, F. Kokocinski, Bronwen L. Aken, D. Barrell, A. Zadissa, S. Searle, If H. A. Barnes, A. Bignell, Veronika Boychenko, T. Hunt, M. Kay, Gaurab Mukherjee, J. Rajan, Gloria Despacio-Reyes, Gary I. Saunders, C. Steward, R. Harte, Michael F. Lin, C. Howald, Andrea Tanzer, T. Derrien, Jacqueline Chrast, Nathalie Walters, S. Balasubramanian, Baikang Pei, M. Tress, J. Rodríguez, Iakes Ezkurdia, Jeltje van Baren, M. Brent, D. Haussler, Manolis Kellis, A. Valencia, A. Reymond, M. Gerstein, R. Guigó, T. Hubbard +40 moresemanticscholar +1 more sourceA genome-wide mutational constraint map quantified from variation in 76,156 human genomes
bioRxiv, 2022 The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders, but attempts to assess constraint for non-protein-coding regions have proven ...Siwei Chen, L. Francioli, J. Goodrich, Ryan L. Collins, Qingbo S. Wang, Jessica Alföldi, N. Watts, C. Vittal, L. Gauthier, T. Poterba, Michael W. Wilson, Yekaterina Tarasova, William Phu, M. Yohannes, Zan Koenig, Y. Farjoun, E. Banks, S. Donnelly, S. Gabriel, N. Gupta, S. Ferriera, C. Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentín Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen M. Tibbetts, A. O’Donnell-Luria, M. Solomonson, C. Seed, Alicia R. Martin, M. Talkowski, H. Rehm, M. Daly, G. Tiao, B. Neale, D. MacArthur, K. Karczewski +43 moresemanticscholar +1 more sourceThe Impact of Genomic Variation on Function (IGVF) Consortium [PDF]
arXiv, 2023 Our genomes influence nearly every aspect of human biology from molecular and
cellular functions to phenotypes in health and disease. Human genetics studies
have now associated hundreds of thousands of differences in our DNA sequence
("genomic variation") with disease risk and other phenotypes, many of which
could reveal novel mechanisms of human ...arxiv Spectral concepts in genome informational analysis [PDF]
arXiv, 2021 The concept of k-spectrum for genomes is here investigated as a basic tool to
analyze genomes. Related spectral notions based on k-mers are introduced with
some related mathematical properties which are relevant for informational
analysis of genomes.arxiv Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation
Molecular Cytogenetics, 2018 Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki +9 moredoaj +1 more sourceChanges in Human Genomics [PDF]
Human Genomics, 2011 I would like to welcome you to the second issue of Volume 5 and also to announce several changes to the Journal including new members of our Editorial Board, the introduction of a new section 'Research Highlights' and, crucially, the introduction of open-access papers.openaire +3 more sourcesCommunity‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability
Molecular Genetics & Genomic Medicine, 2020 Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs +7 moredoaj +1 more sourceThe zebrafish reference genome sequence and its relationship to the human genome
Nature, 2013 Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of ...K. Howe, M. Clark, C. Torroja, J. Torrance, Camille Berthelot, Matthieu Muffato, J. Collins, S. Humphray, K. McLaren, L. Matthews, Stuart Mclaren, I. Sealy, M. Cáccamo, C. Churcher, C. Scott, J. Barrett, Romke Koch, Gerd-Jörg Rauch, S. White, W. Chow, Britt Kilian, Leonor T. Quintais, J. A. Guerra-Assunção, Yi Zhou, Yong Gu, J. Yen, J. Vogel, T. Eyre, S. Redmond, R. Banerjee, J. Chi, B. Fu, E. Langley, Sean F. Maguire, G. Laird, D. Lloyd, E. Kenyon, S. Donaldson, H. Sehra, J. Almeida-King, J. Loveland, S. Trevanion, Matt Jones, M. Quail, D. Willey, A. Hunt, J. Burton, S. Sims, K. McLay, Bob Plumb, Joy L. Davis, C. Clee, K. Oliver, R. Clark, C. Riddle, David Elliott, Glen Threadgold, G. Harden, D. Ware, Sharmin Begum, B. Mortimore, G. Kerry, P. Heath, B. Phillimore, A. Tracey, N. Corby, M. Dunn, Christopher N. Johnson, J. Wood, S. Clark, S. Pelan, G. Griffiths, Michelle Smith, R. Glithero, Philip Howden, Nicholas F. Barker, C. Lloyd, Christopher Stevens, J. Harley, K. Holt, G. Panagiotidis, J. Lovell, H. Beasley, C. Henderson, D. Gordon, Katherine Auger, Deborah Wright, Joanna Collins, C. Raisen, L. Dyer, Kenric Leung, Lauren Robertson, K. Ambridge, D. Leongamornlert, Sarah McGuire, Ruth Gilderthorp, C. Griffiths, Deepa Manthravadi, S. Nichol, G. Barker, S. Whitehead, M. Kay, Jacqueline Brown, Clare Murnane, Emma V. Gray, M. Humphries, N. Sycamore, Darren Barker, D. Saunders, J. Wallis, A. Babbage, S. Hammond, M. Mashreghi-mohammadi, Lucy Barr, Sancha Martin, P. Wray, A. Ellington, N. Matthews, M. Ellwood, Rebecca Woodmansey, G. Clark, James D. Cooper, A. Tromans, D. Grafham, C. Skuce, R. Pandian, R. Andrews, Elliot Harrison, A. Kimberley, J. Garnett, Nigel Fosker, R. Hall, P. Garner, Daniel Kelly, C. Bird, S. Palmer, Ines Gehring, A. Berger, Christopher M. Dooley, Zübeyde Ersan-Ürün, C. Eser, Horst Geiger, Maria Geisler, Lena Karotki, A. Kirn, Judith Konantz, M. Konantz, M. Oberländer, Silke Rudolph-Geiger, Mathias Teucke, C. Lanz, G. Raddatz, K. Osoegawa, B. Zhu, A. Rapp, S. Widaa, C. Langford, Fengtang Yang, S. Schuster, N. Carter, J. Harrow, Z. Ning, Javier Herrero, S. Searle, Anton J. Enright, R. Geisler, R. Plasterk, Charles Lee, M. Westerfield, P. Jong, L. Zon, J. Postlethwait, C. Nüsslein-Volhard, T. Hubbard, H. R. Crollius, J. Rogers, D. Stemple +176 moresemanticscholar +1 more source
