Dumont BL, Eichler EE. (2013). Signals of historical interlocus gene conversion in human segmental duplications. PLoS One Oct 4;8(10):e75949.
Blog Archives
Hominoid fission of chromosome 14/15 and the role of segmental duplications
Giannuzzi G, Pazienza M, Huddleston J, Antonacci F, Malig M, Vives L, Eichler EE, Ventura M. (2013). Hominoid fission of chromosome 14/15 and the role of segmental duplications. Genome Res Nov;23(11):1763-73.
Transmission disequilibrium of small CNVs in simplex autism
Krumm N, O’Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. (2013). Transmission disequilibrium of small CNVs in simplex autism. Am J Hum Genet Oct 3;93(4):595-606.
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions
Nuttle X, Huddleston J, O’Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. (2013). Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nat Methods Aug;10(9):903-9.
Rates and patterns of great ape retrotransposition
Hormozdiari F, Konkel MK, Prado-Martinez J, Chiatante G, Herraez IH, Walker JA, Nelson B, Alkan C, Sudmant PH, Huddleston J, Catacchio CR, Ko A, Malig M, Baker C; Great Ape Genome Project, Marques-Bonet T, Ventura M, Batzer MA, Eichler EE. (2013). Rates and patterns of great ape retrotransposition. Proc Natl Acad Sci U S A Aug 13;110(33):13457-62.
Evolution and diversity of copy number variation in the great ape lineage
Sudmant PH, Huddleston J, Catacchio CR, Malig M, Hillier LW, Baker C, Mohajeri K, Kondova I, Bontrop RE, Persengiev S, Antonacci F, Ventura M, Prado Martinez J, Marques-Bonet T, Eichler EE. (2013). Evolution and diversity of copy number variation in the great ape lineage. Genome Res Sep;23(9):1373-82.
Great ape genetic diversity and population history
Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O’Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prufer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubi C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andres AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T. (2013). Great ape genetic diversity and population history. Nature Jul 25;499(7459):471-5. Great Ape Genome Project
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild
Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C, Morcillo-Suarez C, Alkan C, Hormozdiari F, Rainieri E, Estelle J, Fernandez-Callejo M, Valles M, Ritscher L, Schoneberg T, de la Calle-Mustienes E, Casillas S, Rubio-Acero R, Mele M, Engelken J, Caceres M, Gomez-Skarmeta JL, Gut M, Bertranpetit J, Gut IG, Abello T, Eichler EE, Mingarro I, Lalueza-Fox C, Navarro A, Marques-Bonet T. (2013). The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics May 31;14(1):363.
Properties and rates of germline mutations in humans
Campbell CD, Eichler EE. (2013). Properties and rates of germline mutations in humans. Trends Genet Oct;29(10):575-84.
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
Chin CS, Alexander DH, Marks P, Klammer AA, Drake J, Heiner C, Clum A, Copeland A, Huddleston J, Eichler EE, Turner SW, Korlach J. (2013). Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods Jun;10(6):563-9.
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. (2013). Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet Aug 15;22(16):3259-68.