Liu GE, Ventura M, Cellamare A, Chen L, Cheng Z, Zhu B, Li C, Song J, Eichler EE. (2009). Analysis of recent segmental duplications in the bovine genome. BMC Genomics Dec
1;10(1):571.
Blog Archives
Finding the missing heritability of complex diseases
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM. (2009). Finding the missing heritability of complex diseases. Nature Oct 8;461(7265):747-53.
The origins and impact of primate segmental duplications
Marques-Bonet T, Girirajan S, Eichler EE. (2009). The origins and impact of primate segmental duplications. Trends Genet Oct;25(10):443-54.
Personalized copy number and segmental duplication maps using next-generation sequencing
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE. (2009). Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet Oct;41(10):1061-7.
The Evolution of Human Segmental Duplications and the Core Duplicon Hypothesis
Marques-Bonet T, Eichler EE. (2009). The Evolution of Human Segmental Duplications and the Core Duplicon Hypothesis. Cold Spring Harb Symp Quant Biol 74:355-62.
Targeted capture and massively parallel sequencing of 12 human exomes
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. (2009). Targeted capture and massively parallel sequencing of 12 human exomes. Nature Sep 10;461(7261):272-6.
Sequencing Primate Genomes: What Have We Learned? Annu Rev Genomics Hum Genet 10:355-86
Marques-Bonet T, Ryder OA, Eichler EE. (2009). Sequencing Primate Genomes: What Have We Learned? Annu Rev Genomics Hum Genet 10:355-86.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. (2009). Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance. Hum Mol Genet Oct 1;18(19):3626-31.
Programmed loss of millions of base pairs from a vertebrate genome
Smith JJ, Antonacci F, Eichler EE, Amemiya CT. (2009). Programmed loss of millions of base pairs from a vertebrate genome. Proc Natl Acad Sci U S A Jul 7;106(27):11212-7.
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 G, McLaughlin S, Tsung E, Fu Y, Clouser C, Dunkan C, Ichikawa J, Lee C, Zhang Z, Sheridan A, Fu H, Ranade S, Dimilanta E, Sokolsky T, Zhang L, Hendrickson C, Li B, Kotler L, Stuart J, Malek J, Manning J, Antipova A, Perez D, Moore M, Hayashibara K, Lyons M, Beaudoin R, Coleman B, Laptewicz M, Sanicandro A, Rhodes M, De La Vega F, Gottimukkala RK, Hyland F, Reese M, Yang S, Bafna V, Bashir A, Macbride A, Aklan C, Kidd JM, Eichler EE, Blanchard AP. (2009). Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two base encoding. Genome Res Sep;19(9):1527-41.
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. (2009). A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res Sep;19(9):1579-85.
Tissue-specific variation in DNA methylation levels along human chromosome 1
De Bustos C, Ramos E, Young JM, Tran RK, Menzel U, Langford CF, Eichler EE, Hsu L, Henikoff S, Dumanski JP, Trask BJ. (2009). Tissue-specific variation in DNA methylation levels along human chromosome 1. Epigenetics Chromatin Jun 8;2(1):7.