Cantsilieris S, Stessman HA, Shendure J, Eichler EE. (2017). Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs). Methods Mol Biol 1492:95-106.
Blog Archives
Discovery and genotyping of structural variation from long-read haploid genome sequence data
Huddleston J, Chaisson MJ, Meltz Steinberg K, Warren W, Hoekzema K, Gordon DS, Graves-Lindsay TA, Munson KM, Kronenberg ZN, Vives L, Peluso P, Boitano M, Chin CS, Korlach J, Wilson RK, Eichler EE. (2017). Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res May;27(5):677-685. doi: 10.1101/gr.214007.116. Epub 2016 Nov 28.
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D. (2017). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet Feb;136(2):179-192. Epub 2016 Nov 15.
denovo-db: a compendium of human de novo variants
Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, Stessman HAF, Doebley A, Bernier RA, Nickerson DA, Eichler EE. (2017). denovo-db: a compendium of human de novo variants. Nucl Acids Res Jan 4;45(D1):D804-D811. Epub 2016 Oct 5.
