Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. (2014). Reconstructing complex regions of genomes using long-read sequencing technology. Genome Res Apr;24(4):688-96.
Blog Archives
A de novo convergence of autism genetics and molecular neuroscience
Krumm N, O’Roak BJ, Shendure J, Eichler EE. (2014). A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci Feb;37(2):95-105. Epub 2013 Dec 30.
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
He Z, O’Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. (2014). Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data. Am J Hum Genet Jan 2;94(1):33-46. Epub 2013 Dec 19.
The complete genome sequence of a Neanderthal from the Altai Mountains
Prufer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EELein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Paabo S. (2014). The complete genome sequence of a Neanderthal from the Altai Mountains. Nature Jan 2;505(7481):43-9. Epub 2013 Dec 18.
ORMAN: optimal resolution of ambiguous RNA-Seq multimappings in the presence of novel isoforms
Dao P, Numanagic I, Lin YY, Hach F, Karakoc E, Donmez N, Collins C, Eichler EE, Sahinalp SC. (2014). ORMAN: optimal resolution of ambiguous RNA-Seq multimappings in the presence of novel isoforms. Bioinformatics Mar 1;30(5):644-51. Epub 2013 Oct 15.
Rare copy number variation in cerebral palsy
McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler EE, Martin CL, MacLennan A. (2014). Rare copy number variation in cerebral palsy. Eur J Hum Genet Jan;22(1):40-5.
