Solving genetic disease at the population scale

por Merriman, Barry
Publicado 2014

Introduction

por Rothberg, Jonathan, Merriman, Barry, Higgs, Gadareth
Publicado 2012

Local alignment of two-base encoded DNA sequence

por Homer, Nils, Merriman, Barry, Nelson, Stanley F
Publicado 2009

BFAST: An Alignment Tool for Large Scale Genome Resequencing

por Homer, Nils, Merriman, Barry, Nelson, Stanley F.
Publicado 2009

Local alignment of generalized k-base encoded DNA sequence

por Homer, Nils, Nelson, Stanley F, Merriman, Barry
Publicado 2010

SeqWare Query Engine: storing and searching sequence data in the cloud

por O’Connor, Brian D, Merriman, Barry, Nelson, Stanley F
Publicado 2010

U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line

por Clark, Michael James, Homer, Nils, O'Connor, Brian D., Chen, Zugen, Eskin, Ascia, Lee, Hane, Merriman, Barry, Nelson, Stanley F.
Publicado 2010

Correction: U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line

por Clark, Michael James, Homer, Nils, O'Connor, Brian D., Chen, Zugen, Eskin, Ascia, Lee, Hane, Merriman, Barry, Nelson, Stanley F.
Publicado 2018

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

por Lee, Hane, O'Connor, Brian D, Merriman, Barry, Funari, Vincent A, Homer, Nils, Chen, Zugen, Cohn, Daniel H, Nelson, Stanley F
Publicado 2009

“High Density SNP Association Study of the 17q21 Chromosomal Region Linked to Autism Identifies CACNA1G as a Novel Candidate Gene”

por Strom, Samuel P., Stone, Jennifer L., Bosch, John R. ten, Merriman, Barry, Cantor, Rita M., Geschwind, Daniel H., Nelson, Stanley F.
Publicado 2009

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

por Mamaï, Ons, Boussofara, Lobna, Denguezli, Mohamed, Escande-Beillard, Nathalie, Kraeim, Wahiba, Merriman, Barry, Ben Charfeddine, Ilhem, Stevanin, Giovanni, Bouraoui, Sana, Amara, Abdelbasset, Mili, Amira, Nouira, Rafiaa, H'mida, Dorra, Sriha, Badreddine, Gribaa, Moez, Saad, Ali, Reversade, Bruno
Publicado 2015

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

por Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.
Publicado 2022

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

por Lee, Ji Eun, Silhavy, Jennifer L., Zaki, Maha S., Schroth, Jana, Bielas, Stephanie L., Marsh, Sarah E., Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M., Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V., Glass, Ian A., Cluckey, Andrew, Louie, Carrie M., Lee, Jeong Ho, Raynes, Hilary R., Rapin, Isabelle, Castroviejo, Ignacio P., Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F., Hildebrandt, Friedhelm, Johnson, Colin A., Doherty, Daniel A., Valente, Enza Maria, Gleeson, Joseph G.
Publicado 2012

Molecular electronics sensors on a scalable semiconductor chip: A platform for single-molecule measurement of binding kinetics and enzyme activity

por Fuller, Carl W., Padayatti, Pius S., Abderrahim, Hadi, Adamiak, Lisa, Alagar, Nolan, Ananthapadmanabhan, Nagaraj, Baek, Jihye, Chinni, Sarat, Choi, Chulmin, Delaney, Kevin J., Dubielzig, Rich, Frkanec, Julie, Garcia, Chris, Gardner, Calvin, Gebhardt, Daniel, Geiser, Tim, Gutierrez, Zachariah, Hall, Drew A., Hodges, Andrew P., Hou, Guangyuan, Jain, Sonal, Jones, Teresa, Lobaton, Raymond, Majzik, Zsolt, Marte, Allen, Mohan, Prateek, Mola, Paul, Mudondo, Paul, Mullinix, James, Nguyen, Thuan, Ollinger, Frederick, Orr, Sarah, Ouyang, Yuxuan, Pan, Paul, Park, Namseok, Porras, David, Prabhu, Keshav, Reese, Cassandra, Ruel, Travers, Sauerbrey, Trevor, Sawyer, Jaymie R., Sinha, Prem, Tu, Jacky, Venkatesh, A. G., VijayKumar, Sushmitha, Zheng, Le, Jin, Sungho, Tour, James M., Church, George M., Mola, Paul W., Merriman, Barry
Publicado 2022

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014