Personal genomes and precision medicine

por Highnam, Gareth, Mittelman, David
Publicado 2012

The landscape of human STR variation

por Willems, Thomas, Gymrek, Melissa, Highnam, Gareth, Mittelman, David, Erlich, Yaniv
Publicado 2014

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

por Highnam, Gareth, Franck, Christopher, Martin, Andy, Stephens, Calvin, Puthige, Ashwin, Mittelman, David
Publicado 2013

An analytical framework for optimizing variant discovery from personal genomes

por Highnam, Gareth, Wang, Jason J., Kusler, Dean, Zook, Justin, Vijayan, Vinaya, Leibovich, Nir, Mittelman, David
Publicado 2015

Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans

por Quilez, Javier, Guilmatre, Audrey, Garg, Paras, Highnam, Gareth, Gymrek, Melissa, Erlich, Yaniv, Joshi, Ricky S., Mittelman, David, Sharp, Andrew J.
Publicado 2016

Tandem repeat variation in human and great ape populations and its impact on gene expression divergence

por Bilgin Sonay, Tugce, Carvalho, Tiago, Robinson, Mark D., Greminger, Maja P., Krützen, Michael, Comas, David, Highnam, Gareth, Mittelman, David, Sharp, Andrew, Marques-Bonet, Tomàs, Wagner, Andreas
Publicado 2015

Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers

por Balanovsky, Oleg, Zhabagin, Maxat, Agdzhoyan, Anastasiya, Chukhryaeva, Marina, Zaporozhchenko, Valery, Utevska, Olga, Highnam, Gareth, Sabitov, Zhaxylyk, Greenspan, Elliott, Dibirova, Khadizhat, Skhalyakho, Roza, Kuznetsova, Marina, Koshel, Sergey, Yusupov, Yuldash, Nymadawa, Pagbajabyn, Zhumadilov, Zhaxybay, Pocheshkhova, Elvira, Haber, Marc, A. Zalloua, Pierre, Yepiskoposyan, Levon, Dybo, Anna, Tyler-Smith, Chris, Balanovska, Elena
Publicado 2015

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

por 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.
Publicado 2015

Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines

por Huang, Wen, Massouras, Andreas, Inoue, Yutaka, Peiffer, Jason, Ràmia, Miquel, Tarone, Aaron M., Turlapati, Lavanya, Zichner, Thomas, Zhu, Dianhui, Lyman, Richard F., Magwire, Michael M., Blankenburg, Kerstin, Carbone, Mary Anna, Chang, Kyle, Ellis, Lisa L., Fernandez, Sonia, Han, Yi, Highnam, Gareth, Hjelmen, Carl E., Jack, John R., Javaid, Mehwish, Jayaseelan, Joy, Kalra, Divya, Lee, Sandy, Lewis, Lora, Munidasa, Mala, Ongeri, Fiona, Patel, Shohba, Perales, Lora, Perez, Agapito, Pu, LingLing, Rollmann, Stephanie M., Ruth, Robert, Saada, Nehad, Warner, Crystal, Williams, Aneisa, Wu, Yuan-Qing, Yamamoto, Akihiko, Zhang, Yiqing, Zhu, Yiming, Anholt, Robert R.H., Korbel, Jan O., Mittelman, David, Muzny, Donna M., Gibbs, Richard A., Barbadilla, Antonio, Johnston, J. Spencer, Stone, Eric A., Richards, Stephen, Deplancke, Bart, Mackay, Trudy F.C.
Publicado 2014