M
Melissa M. Pentony
Researcher at National Institute for Health Research
Publications - 11
Citations - 547
Melissa M. Pentony is an academic researcher from National Institute for Health Research. The author has contributed to research in topics: Gene & Pharmacogenomics. The author has an hindex of 8, co-authored 11 publications receiving 406 citations. Previous affiliations of Melissa M. Pentony include University of Oxford & Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
Possible Loss of the Chloroplast Genome in the Parasitic Flowering Plant Rafflesia lagascae (Rafflesiaceae)
Jeanmaire Molina,Khaled M. Hazzouri,Daniel L. Nickrent,Matt Geisler,Rachel S. Meyer,Melissa M. Pentony,Jonathan M. Flowers,Jonathan M. Flowers,Pieter B. Pelser,Julie F. Barcelona,Samuel Alan Inovejas,Iris Diana Uy,Wei Yuan,Olivia Wilkins,Claire Iphanise Michel,Selina Locklear,Gisela P. Concepcion,Michael D. Purugganan,Michael D. Purugganan +18 more
TL;DR: The inability to identify substantial plastid genome sequences from R. lagascae using multiple approaches suggests that the parasitic plant genus Rafflesia may be the first plant group for which there is no recognizable plastids genome, or if present is found in cryptic form at very low levels.
Journal ArticleDOI
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Katharina Schwarze,James M. Buchanan,James M. Buchanan,Jilles M Fermont,Helene Dreau,Mark W Tilley,Mark W Tilley,John Taylor,Pavlos Antoniou,Samantha J. L. Knight,Samantha J. L. Knight,Carme Camps,Carme Camps,Melissa M. Pentony,Melissa M. Pentony,Erika Kvikstad,Erika Kvikstad,Steve Harris,Steve Harris,Niko Popitsch,Niko Popitsch,Alistair T. Pagnamenta,Anna Schuh,Jenny C. Taylor,Jenny C. Taylor,Sarah Wordsworth,Sarah Wordsworth +26 more
TL;DR: The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory if consumable costs are considerably reduced and sequencing is performed at scale.
Journal ArticleDOI
Modularity of intrinsic disorder in the human proteome
TL;DR: It is shown that disordered regions frequently appear to be independent functional units, and judged by complete association to certain protein domains, may be evolutionarily conserved.
Journal ArticleDOI
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Marion Lenglet,Marion Lenglet,Marion Lenglet,Florence Robriquet,Florence Robriquet,Klaus Schwarz,Klaus Schwarz,Carme Camps,Anne Couturier,David Hoogewijs,Alexandre Buffet,Alexandre Buffet,Samantha J. L. Knight,Sophie Gad,Sophie Gad,Sophie Couvé,Sophie Couvé,Franck Chesnel,Mathilde Pacault,Pierre Lindenbaum,Sylvie Job,Solenne Dumont,Thomas Besnard,Marine Cornec,Helene Dreau,Melissa M. Pentony,Erika Kvikstad,Sophie Deveaux,Nelly Burnichon,Sophie Ferlicot,Mathias Vilaine,Jean-Michaël Mazzella,Fabrice Airaud,Céline Garrec,Laurence Heidet,Sabine Irtan,Elpis Mantadakis,Karim Bouchireb,Klaus-Michael Debatin,Richard Redon,Stéphane Bézieau,Brigitte Bressac-de Paillerets,Brigitte Bressac-de Paillerets,Bin Tean Teh,François Girodon,Maria-Luigia Randi,Maria Caterina Putti,Vincent Bours,Richard van Wijk,Joachim R. Göthert,Antonis Kattamis,Nicolas Janin,Celeste Bento,Jenny C. Taylor,Yannick Arlot-Bonnemains,Stéphane Richard,Anne-Paule Gimenez-Roqueplo,Holger Cario,Betty Gardie +58 more
TL;DR: It is demonstrated that cryptic exon retention and exon skipping are new VHL alterations and reveals a novel complex splicing regulation of the VHL gene, which open new avenues for diagnosis and research regarding the V HL-related hypoxia-signaling pathway.
Journal ArticleDOI
Different evolutionary histories of two cation/proton exchanger gene families in plants
Inês S. Pires,Inês S. Pires,Sónia Negrão,Melissa M. Pentony,Isabel A. Abreu,M. Margarida Oliveira,Michael D. Purugganan +6 more
TL;DR: It is proposed that the different evolution histories are related with the proteins’ function and localization, and that the NHX and SOS1 families are examples of two different evolutionary paths through which duplication events may result in adaptive evolution of stress tolerance.