Reich D, Green RE, Kircher M, Krause J, Patterson N, Durand EY, Viola B, Briggs AW, Stenzel U, Johnson PL, Maricic T, Good JM, Marques-Bonet T, Alkan C, Fu Q, Mallick S, Li H, Meyer M, Eichler EE, Stoneking M, Richards M, Talamo S, Shunkov MV, Derevianko AP, Hublin JJ, Kelso J, Slatkin M, Paabo S. (2010). Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature Dec 23;468(7327):1053-60.
Blog Archives
A human genome structural variation sequencing resource reveals insights into mutational mechanisms
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE. (2010). A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell Nov 24;143(5):837-47.
Diversity of human copy number variation and multicopy genes
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, 1000 Genomes Project, Eichler EE. (2010). Diversity of human copy number variation and multicopy genes. Science October 29;330(6004):641-646.
A map of human genome variation from population-scale sequencing
The 1000 Genomes Project Consortium. (2010). A map of human genome variation from population-scale sequencing. Nature Oct 28;467(7319):1061-73. *Contributors Aksay G, Alkan C, Hormozdiari F, Kidd JM, Sudmant PH, Eichler EE to structural variation analyses of the manuscript, pages 1063-1066.
De novo rates and selection of large copy number variation
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. (2010). De novo rates and selection of large copy number variation. Genome Res Nov;20(11):1469-81.
Recurrent 200-kb deletions of 16p11.2 that include theSH2B1 gene are associated with developmental delay and obesity
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD. (2010). Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genet Med Oct;12(10):641-7.
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan S, Eichler EE. (2010). Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet Oct 15;19(R2):R176-87.
Human IRGM gene “to be or not to be”
Bekpen C, Xavier RJ, Eichler EE. (2010). Human IRGM gene “to be or not to be”. Semin Immunopathol Dec;32(4):437-44.
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. (2010). A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet Sep;42(9):745-50. Epub 2010 Aug 22.
Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
Mefford HC, Shafer N, Antonacci F, Tsai JM, Park SS, Hing AV, Rieder MJ, Smyth MD, Speltz ML, Eichler EE, Cunningham ML. (2010). Copy number variation analysis in single-suture
craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A Sep;152A(9):2203-10.
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy
Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH Jr, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, Chance PF, Hannibal MC. (2010). Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. J Med Genet Sep;47(9):601-7. Epub 2009 Nov 25.
mrsFAST: a cache-oblivious algorithm for short-read mapping
Hach F, Hormozdiari F, Alkan C, Hormozdiari F, Birol I, Eichler EE, Sahinalp SC. (2010). mrsFAST: a cache-oblivious algorithm for short-read mapping. Nat Methods Aug;7(8):576-7.
