The Genome Institute Publications
Chen K, Wallis JW, Kandoth C, Kalicki-Veizer JM, Mungall KL, Mungall AJ, Jones SJ, Marra…
BreakFusion: Targeted Assembly-based Identification of Gene Fusions in Whole Transcriptome Paired-end Sequencing Data.
Bioinformatics. 2012 May 4. [Epub ahead of print] PubMed | View Abstract
Jasinska AJ, Lin MK, Service S, Choi OW, Deyoung J, Grujic O, Kong SY, Jung…
A non-human primate system for large-scale genetic studies of complex traits.
Hum Mol Genet. 2012 May 3. [Epub ahead of print] PubMed | View Abstract
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian…
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication.
Cell. 2012 May 2. [Epub ahead of print] PubMed | View Abstract
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee…
De novo gene disruptions in children on the autistic spectrum.
Neuron. 2012 Apr 26;74(2):285-99. PubMed | View Abstract
Young MA, Larson DE, Sun CW, George DR, Ding L, Miller CA, Lin L, Pawlik…
Background Mutations in Parental Cells Account for Most of the Genetic Heterogeneity of Induced Pluripotent Stem Cells.
Cell Stem Cell. 2012 Apr 26. [Epub ahead of print] PubMed | View Abstract
Mardis ER.
Genome sequencing and cancer.
Curr Opin Genet Dev. 2012 Apr 23. [Epub ahead of print] PubMed | View Abstract
Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J,…
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Am J Hum Genet. 2012 Apr 6;90(4):599-613. PubMed | View Abstract
Ventura M, Catacchio C, Sajjadian S, Vives L, Sudmant P, Marques-Bonet T, Graves TA, Wilson…
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2
Genome Res. 2012 Mar 14. [Epub ahead of print] PubMed | View Abstract
Walter MJ, Shen D, Ding L, Shao J, Koboldt DC, Chen K, Larson DE, McLellan…
Clonal Architecture of Secondary Acute Myeloid Leukemia.
N Engl J Med. 2012 Mar 14. [Epub ahead of print] PubMed | View Abstract
Cheung NK, Zhang J, Lu C, Parker M, Bahrami A, Tickoo SK, Heguy A, Pappo…
Association of age at diagnosis and genetic mutations in patients with neuroblastoma.
JAMA. 2012 Mar 14;307(10):1062-71. PubMed | View Abstract
Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen…
Insights into hominid evolution from the gorilla genome sequence.
Nature. 2012 Mar 7;483(7388):169-75. doi: 10.1038/nature10842. PubMed | View Abstract
Hughes JF, Skaletsky H, Brown LG, Pyntikova T, Graves T, Fulton RS, Dugan S, Ding…
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
Nature. 2012 Feb 22. doi: 10.1038/nature10843. [Epub ahead of print] PubMed | View Abstract
Rao RU, Huang Y, Abubucker S, Heinz M, Crosby SD, Mitreva M, Weil GJ.
Effects of Doxycycline on gene expression in Wolbachia and Brugia malayi adult female worms in vivo.
J Biomed Sci. 2012 Feb 9;19(1):21. [Epub ahead of print] PubMed | View Abstract
Matsushita H, Vesely MD, Koboldt DC, Rickert CG, Uppaluri R, Magrini VJ, Arthur CD, White…
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting.
Nature. 2012 Feb 8 [Epub ahead of print]. PubMed | View Abstract
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis…
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing.
Genome Res. 2012 Feb 2. [Epub ahead of print] PubMed | View Abstract
Chen F, Ding L.
Co-survival of the fittest few: mosaic amplification of receptor tyrosine kinases in glioblastoma.
Genome Biol. 2012 Jan 30;13(1):141. [Epub ahead of print] PubMed | View Abstract
St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project, Wu G, Broniscer A, McEachron…
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
Nat Genet. 2012 Jan 29 [Epub ahead of print] PubMed | View Abstract
Mitreva M.
The genome of a blood fluke associated with human cancer.
Nat Genet. 2012 Jan 27;44(2):116-8. doi: 10.1038/ng.1082. PubMed | View Abstract
Cejkova D, Zobanikova M, Chen L, Pospisilova P, Strouhal M, Qin X, Mikalova L, Norris…
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence.
PLoS Negl Trop Dis. 2012 Jan;6(1):e1471. doi: 10.1371/journal.pntd.0001471. Epub 2012 Jan 24. PubMed | View Abstract
Maher CA, Wilson RK.
Chromothripsis and human disease: piecing together the shattering process.
Cell. 2012 Jan 20;148(1-2):29-32. PubMed | View Abstract
Koboldt DC, Larson DE, Chen K, Ding L, Wilson RK.
Massively parallel sequencing approaches for characterization of structural variation.
Methods Mol Biol. 2012;838:369-84. PubMed | View Abstract
Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, Ritchey JK, Young…
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
Nature. 2012 Jan 11. doi: 10.1038/nature10738. [Epub ahead of print] PubMed | View Abstract
Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen…
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
Nature. 2012 Jan 11;481(7380):157-63. doi: 10.1038/nature10725. PubMed | View Abstract
Zhang J, Benavente CA, McEvoy J, Flores-Otero J, Ding L, Chen X, Ulyanov A, Wu…
A novel retinoblastoma therapy from genomic and epigenetic analyses.
Nature. 2012 Jan 11. doi: 10.1038/nature10733. [Epub ahead of print] PubMed | View Abstract
Swart EC, Nowacki M, Shum J, Stiles H, Higgins BP, Doak TG, Schotanus K, Magrini…
The Oxytricha trifallax mitochondrial genome.
Genome Biol Evol. 2011 Dec 16. [Epub ahead of print] PubMed | View Abstract
