Accounting for uncertainty in DNA sequencing data von O’Rawe, Jason A, Ferson, Scott, Lyon, Gholson J

Volltext

Accurate de novo and transmitted indel detection in exome-capture data using microassembly von Narzisi, Giuseppe, O'Rawe, Jason A, Iossifov, Ivan, Fang, Han, Lee, Yoon-ha, Wang, Zihua, Wu, Yiyang, Lyon, Gholson J, Wigler, Michael, Schatz, Michael C

Volltext

Reducing INDEL calling errors in whole genome and exome sequencing data von Fang, Han, Wu, Yiyang, Narzisi, Giuseppe, O'Rawe, Jason A, Barrón, Laura T Jimenez, Rosenbaum, Julie, Ronemus, Michael, Iossifov, Ivan, Schatz, Michael C, Lyon, Gholson J

Volltext

Indel variant analysis of short-read sequencing data with Scalpel von Fang, Han, Bergmann, Ewa A, Arora, Kanika, Vacic, Vladimir, Zody, Michael C, Iossifov, Ivan, O'Rawe, Jason A, Wu, Yiyang, Jimenez Barron, Laura T, Rosenbaum, Julie, Ronemus, Michael, Lee, Yoon-ha, Wang, Zihua, Dikoglu, Esra, Jobanputra, Vaidehi, Lyon, Gholson J, Wigler, Michael, Schatz, Michael C, Narzisi, Giuseppe

Volltext

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations von O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.

Volltext

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person von O'Rawe, Jason A, Fang, Han, Rynearson, Shawn, Robison, Reid, Kiruluta, Edward S, Higgins, Gerald, Eilbeck, Karen, Reese, Martin G, Lyon, Gholson J

Volltext

Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline von Jiménez-Barrón, Laura T, O'Rawe, Jason A, Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J

Volltext

Accurate detection of de novo and transmitted indels within exome-capture data using micro-assembly von Narzisi, Giuseppe, O'Rawe, Jason A., Iossifov, Ivan, Fang, Han, Lee, Yoon-ha, Wang, Zihua, Wu, Yiyang, Lyon, Gholson J., Wigler, Michael, Schatz, Michael C.

Volltext