Vu TH, Coccaro EF, Eichler EE, Girirajan S. (2011). Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder. Am J Med Genet B Neuropsychiatr Genet Dec;156B(7):808-16.
Blog Archives
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee
Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, Shendure J, Wilson RK, Eichler EE. (2011). Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res Oct;21(10):1640-9.
Modernizing reference genome assemblies
Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen HC, Agarwala R, McLaren WM, Ritchie GR, Albracht D, Kremitzki M, Rock S, Kotkiewicz H, Kremitzki C, Wollam A, Trani L, Fulton L, Fulton R, Matthews L, Whitehead S, Chow W, Torrance J, Dunn M, Harden G, Threadgold G, Wood J, Collins J, Heath P, Griffiths G, Pelan S, Grafham D, Eichler EE, Weinstock G, Mardis ER, Wilson RK, Howe K, Flicek P, Hubbard T. (2011). Modernizing reference genome assemblies. PLoS Biol Jul;9(7):e1001091.
Sensitive and fast mapping of di-base encoded reads
Hormozdiari F, Hach F, Sahinalp SC, Eichler EE, Alkan C. (2011). Sensitive and fast mapping of di-base encoded reads. Bioinformatics Jul 15;27(14):1915-21.
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O’Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet Jun;43(6):585-9.
Alu repeat discovery and characterization within human genomes
Hormozdiari F, Alkan C, Ventura M, Hajirasouliha I, Malig M, Hach F, Yorukoglu D, Dao P, Bakhshi M, Sahinalp SC, Eichler EE. (2011). Alu repeat discovery and characterization within human genomes. Genome Res Jun;21(6):840-9. Epub 2010 Dec 3.
Population-genetic properties of differentiated human copy-numberpolymorphisms
Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. (2011). Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet Mar 11;88(3):317-32.
Genome structural variation discovery and genotyping
Alkan C, Coe BP, Eichler EE. (2011). Genome structural variation discovery and genotyping. Nat Rev Genet May;12(5):363-76.
Mapping copy number variation by population-scale genome sequencing
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stutz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. (2011). Mapping copy number variation by population-scale genome sequencing. Nature Feb 3;470(7332):59-65.
Haplotype-resolved genome sequencing of a Gujarati Indian individual
Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. (2011). Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol Jan;29(1):59-63. Epub 2010 Dec 19.
Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses
Hurle B, Marques-Bonet T, Antonacci F, Hughes I, Ryan JF, Comparative Sequencing Program N, Eichler EE, Ornitz DM, Green ED. (2011). Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses. BMC Evol Biol Jan 24;11(1):23.