Publications

A probabilistic disease-gene finder for personal genomes.

Yandell M, Huff CD, Hu H, Singleton M, Moore B, Xing J, Jorde LB, Reese MG.

Genome Research. Published online June 23, 2011. 21: doi:10.1101/gr.123158.111.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope, A, Yandell M, Arnesen T, and Lyon G, et al.

American Journal of Human Genetics. Published online June 23, 2011. doi:10.1016/j.ajhg.2011.05.017.

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics.

Moore B, Hu H, Singleton M, De La Vega, FM, Reese MG, Yandell M.

Genet Med. 2011 Mar;13(3):210-7. PMID: 21325948 [PubMed] Free text

A standard variation file format for human genome sequences.

Reese MG, Moore B, Batchelor C, Salas F, Cunningham F, Marth G, Stein L, Flicek P, Yandell M, Eilbeck K.

Genome Biology. 2010 11:R88 doi:10.1186/gb-2010-11-8-r88. PMID: 20796305 - Free PCM Article Free text

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, Zhang L, Sheridan A, Fu H, Hendrickson CL, Li B, Kotler L, Stuart JR, Malek JA, Manning JM, Antipova AA, Perez DS, Moore MP, Hayashibara KC, Lyons MR, Beaudoin RE, Coleman BE, Laptewicz MW, Sannicandro AE, Rhodes MD, Gottimukkala RK, Yang S, Bafna V, Bashir A, MacBride A, Alkan C, Kidd JM, Eichler EE, Reese MG, De La Vega FM, Blanchard AP.

Genome Res. 2009 Sep;19(9):1527-41. Epub 2009 Jun 22.PMID: 19546169 [PubMed - indexed for MEDLINE] Free PMC Article Free textRelated citations

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.

Yandell M, Moore B, Salas F, Mungall C, MacBride A, White C, Reese MG.

PLoS Comput Biol. 2008 Nov;4(11):e1000218. Epub 2008 Nov 7.PMID: 18989397 [PubMed - indexed for MEDLINE] Free PMC Article Free text Related citations

EGASP: the human ENCODE Genome Annotation Assessment Project.

Guigó R, Flicek P, Abril JF, Reymond A, Lagarde J, Denoeud F, Antonarakis S, Ashburner M, Bajic VB, Birney E, Castelo R, Eyras E, Ucla C, Gingeras TR, Harrow J, Hubbard T, Lewis SE, Reese MG.

Genome Biol. 2006;7 Suppl 1:S2.1-31. Epub 2006 Aug 7. Review.PMID: 16925836 [PubMed - indexed for MEDLINE] Free PMC Article Free text Related citations

EGASP: collaboration through competition to find human genes.

Guigó R, Reese MG.

Nat Methods. 2005 Aug;2(8):575-7.PMID: 16094379 [PubMed - indexed for MEDLINE] Related citations