Search Results - "Frankish, Adam"

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Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.

Authors: Frankish, Adam Uszczynska, Barbara Ritchie, Graham R. S. et al.

Source: BMC Genomics. 2015 Suppl 8, Vol. 16, p1-11. 11p. 1 Diagram, 1 Chart, 3 Graphs.

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes.

Authors: MacArthur, Daniel G. Balasubramanian, Suganthi Frankish, Adam et al.

Source: Science (pre-March 2025). 2/17/2012, Vol. 335 Issue 6070, p823-828. 6p.

Subjects: Human genome, Human gene mapping, Genes, Proteins, Alleles, Natural selection, Phenotypes

The DNA sequence of the human X chromosome.

Authors: Ross, Mark T. Grafham, Darren V. Coffey, Alison J. et al.

Source: Nature. 3/17/2005, Vol. 434 Issue 7031, p325-337. 13p.

Subjects: Nucleotide sequence, X chromosome, Sex chromosomes, Human genome, Genes, Genetics, Human genetics

Progress, Challenges, and Surprises in Annotating the Human Genome.

Authors: Zerbino, Daniel R. Frankish, Adam Flicek, Paul

Source: Annual Review of Genomics & Human Genetics. 2020, Vol. 21, p55-79. 19p.

Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy.

Authors: Schoeler, Natasha E. Leu, Costin Balestrini, Simona et al.

Source: Epilepsia (Series 4). Aug2018, Vol. 59 Issue 8, p1557-1566. 10p.

Subjects: Ketogenic diet, Diet in disease, Drug resistance, Epilepsy, Epilepsy research

Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy.

Authors: Pagni, Susanna Mills, James D. Frankish, Adam et al.

Source: Neuropathology & Applied Neurobiology. Apr2022, Vol. 48 Issue 3, p1-20. 20p.

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GENCODE: The reference human genome annotation for The ENCODE Project.

Authors: Harrow, Jennifer Frankish, Adam Gonzalez, Jose M. et al.

Source: Genome Research. Sep2012, Vol. 22 Issue 9, p1760-1774. 15p.

Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution.

Authors: Deyou Zheng Frankish, Adam Baertsch, Robert et al.

Source: Genome Research. Jun2007, Vol. 17 Issue 6, p839-851. 13p. 2 Diagrams, 1 Chart, 7 Graphs.

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The importance of identifying alternative splicing in vertebrate genome annotation.

Authors: Frankish, Adam Mudge, Jonathan M. Thomas, Mark et al.

Source: Database: The Journal of Biological Databases & Curation. Jan2012, Vol. 2012, p1-1. 1p.

The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements.

Authors: Morales, Joannella McMahon, Aoife C. Loveland, Jane et al.

Source: Molecular Genetics & Genomic Medicine. Dec2021, Vol. 9 Issue 12, p1-8. 8p.

Functional transcriptomics in the post-ENCODE era.

Authors: Mudge, Jonathan M. Frankish, Adam Harrow, Jennifer

Source: Genome Research. Dec2013, Vol. 23 Issue 12, p8-8. 1p.

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Genome analysis of the Amsacta moorei entomopoxvirus

Authors: Frankish, Adam

URL: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.394665

Expert curation of the human and mouse olfactory receptor gene repertoires identifies conserved coding regions split across two exons.

Authors: Barnes, If H. A. Ibarra-Soria, Ximena Fitzgerald, Stephen et al.

Source: BMC Genomics. 3/3/2020, Vol. 21 Issue 1, p1-15. 15p. 1 Diagram, 3 Charts, 4 Graphs.

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Authors: Steward, Charles A. Parker, Alasdair P. J. Minassian, Berge A. et al.

Source: Genome Medicine. 5/30/2017, Vol. 9, p1-19. 19p.