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Resource: A DNA methylation fingerprint of 1628 human samples
- Agustin F. Fernandez,
- Yassen Assenov,
- Jose Ignacio Martin-Subero,
- Balazs Balint,
- Reiner Siebert,
- Hiroaki Taniguchi,
- Hiroyuki Yamamoto,
- Manuel Hidalgo,
- Aik-Choon Tan,
- Oliver Galm,
- Isidre Ferrer,
- Montse Sanchez-Cespedes,
- Alberto Villanueva,
- Javier Carmona,
- Jose V. Sanchez-Mut,
- Maria Berdasco,
- Victor Moreno,
- Gabriel Capella,
- David Monk,
- Esteban Ballestar,
- Santiago Ropero,
- Ramon Martinez,
- Marta Sanchez-Carbayo,
- Felipe Prosper,
- Xabier Agirre,
- Mario F. Fraga,
- Osvaldo Graña,
- Luis Perez-Jurado,
- Jaume Mora,
- Susana Puig,
- Jaime Prat,
- Lina Badimon,
- Annibale A. Puca,
- Stephen J. Meltzer,
- Thomas Lengauer,
- John Bridgewater,
- Christoph Bock,
- and Manel Esteller
Genome Res. February 2012 22: 407-419; Published in Advance May 25, 2011, doi:10.1101/gr.119867.110
...lupus erythematosus (Supplemental Fig. 9), the DNA methylation patterns obtained from the 1322 CpG sites distinguished them from their corresponding normal tissues. Most importantly, the corresponding distinctions between brain samples of dementia with Lewy bodies versus normal brain and leukocytes...
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Research: Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence
- Lavinia Gordon,
- Jihoon E. Joo,
- Joseph E. Powell,
- Miina Ollikainen,
- Boris Novakovic,
- Xin Li,
- Roberta Andronikos,
- Mark N. Cruickshank,
- Karen N. Conneely,
- Alicia K. Smith,
- Reid S. Alisch,
- Ruth Morley,
- Peter M. Visscher,
- Jeffrey M. Craig,
- and Richard Saffery
Genome Res. August 2012 22: 1395-1406; Published in Advance July 16, 2012, doi:10.1101/gr.136598.111
...contribution of genetic and shared and nonshared environmental factors to phenotypic variability. Using DNA methylation profiling of ∼20,000 CpG sites as a phenotype, we have examined discordance levels in three neonatal tissues from 22 MZ and 12 DZ twin pairs. MZ twins exhibit a wide range of within...
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Research: A functional methylome map of ulcerative colitis
- Robert Häsler,
- Zhe Feng,
- Liselotte Bäckdahl,
- Martina E. Spehlmann,
- Andre Franke,
- Andrew Teschendorff,
- Vardhman K. Rakyan,
- Thomas A. Down,
- Gareth A. Wilson,
- Andrew Feber,
- Stephan Beck,
- Stefan Schreiber,
- and Philip Rosenstiel
Genome Res. November 2012 22: 2130-2137; Published in Advance July 23, 2012, doi:10.1101/gr.138347.112
...for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nat Genet 42: 292–294. Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nyga˚rd H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R. 2012. DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis...
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Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- Terence Gall-Duncan,
- Nozomu Sato,
- Ryan K.C. Yuen,
- and Christopher E. Pearson
Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
...for their detection (van der Sanden et al. 2021).One major technical issue is that disease-associated expanded TR tracts (whose tracts are, for the most part, much shorter than those in satellite DNA) have been tough obstacles for Illumina's widely used HiSeq systems that depend on assembly of short-read sequences...

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