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by Altshuler, David L and Durbin, Richard M and Abecasis, Gonçalo R and Bentley, David R and Chakravarti, Aravinda and Clark, Andrew G and Collins, Francis S and De La Vega, Francisco M and Donnelly, Peter and Egholm, Michael and Flicek, Paul and Gabriel, Stacey B and Gibbs, Richard A and Knoppers, Bartha M and Lander, Eric S and Lehrach, Hans and Mardis, Elaine R and McVean, Gil A and Nickerson, Debbie A and Peltonen, Leena and Schafer, Alan J and Sherry, Stephen T and Wang, Jun and Wilson, Richard K and Deiros, David and Metzker, Mike and Muzny, Donna and Reid, Jeff and Wheeler, David and Wang, Shenzhen Jun and Li, Jingxiang and Jian, Min and Li, Guoqing and Li, Ruiqiang and Liang, Huiqing and Tian, Geng and Wang, Bo and Wang, Jian and Wang, Wei and Yang, Huanming and Zhang, Xiuqing and Zheng, Huisong and Ambrogio, Lauren and Bloom, Toby and Cibulskis, Kristian and Fennell, Tim J and Jaffe, David B and Shefler, Erica and Sougnez, Carrie L and Bentley, Illumina David R and Gormley, Niall and Humphray, Sean and Kingsbury, Zoya and Koko-Gonzales, Paula and Stone, Jennifer and Mc Kernan, Kevin J and Costa, Gina L and Ichikawa, Jeffry K and Lee, Clarence C and Sudbrak, Ralf and Borodina, Tatiana A and Dahl, Andreas and Davydov, Alexey N and Marquardt, Peter and Mertes, Florian and Nietfeld, Wilfiried and Rosenstiel, Philip and Schreiber, Stefan and Soldatov, Aleksey V and Timmermann, Bernd and Tolzmann, Marius and Affourtit, Jason and Ashworth, Dana and Attiya, Said and Bachorski, Melissa and Buglione, Eli and Burke, Adam and Caprio, Amanda and Celone, Christopher and Clark, Shauna and Conners, David and Desany, Brian and Gu, Lisa and Guccione, Lorri and Kao, Kalvin and Kebbel, Andrew and Knowlton, Jennifer and Labrecque, Matthew and McDade, Louise and Mealmaker, Craig and Minderman, Melissa and Nawrocki, Anne and Niazi, Faheem and Pareja, Kristen and Ramenani, Ravi and Riches, David and Song, Wanmin and Turcotte, Cynthia and Wang, Shally and Dooling, David and ... and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 10/2010, Volume 467, Issue 7319, pp. 1061 - 1073
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2013, Volume 45, Issue 2, pp. 172 - 179
Journal Article
by Taylor, Jenny C and Martin, Hilary C and Lise, Stefano and Broxholme, John and Cazier, Jean-Baptiste and Rimmer, Andy and Kanapin, Alexander and Lunter, Gerton and Fiddy, Simon and Allan, Chris and Aricescu, A. Radu and Attar, Moustafa and Babbs, Christian and Becq, Jennifer and Beeson, David and Bento, Celeste and Bignell, Patricia and Blair, Edward and Buckle, Veronica J and Bull, Katherine and Cais, Ondrej and Cario, Holger and Chapel, Helen and Copley, Richard R and Cornall, Richard and Craft, Jude and Dahan, Karin and Davenport, Emma E and Dendrou, Calliope and Devuyst, Olivier and Fenwick, Aimée L and Flint, Jonathan and Fugger, Lars and Gilbert, Rodney D and Goriely, Anne and Green, Angie and Greger, Ingo H and Grocock, Russell and Gruszczyk, Anja V and Hastings, Robert and Hatton, Edouard and Higgs, Doug and Hill, Adrian and Holmes, Chris and Howard, Malcolm and Hughes, Linda and Humburg, Peter and Johnson, David and Karpe, Fredrik and Kingsbury, Zoya and Kini, Usha and Knight, Julian C and Krohn, Jonathan and Lamble, Sarah and Langman, Craig and Lonie, Lorne and Luck, Joshua and McCarthy, Davis and McGowan, Simon J and McMullin, Mary Frances and Miller, Kerry A and Murray, Lisa and Németh, Andrea H and Nesbit, M. Andrew and Nutt, David and Ormondroyd, Elizabeth and Bang Oturai, Annette and Pagnamenta, Alistair and Patel, Smita Y and Percy, Melanie and Petousi, Nayia and Piazza, Paolo and Piret, Sian E and Polanco-Echeverry, Guadalupe and Popitsch, Niko and Powrie, Fiona and Pugh, Chris and Quek, Lynn and Robbins, Peter A and Robson, Kathryn and Russo, Alexandra and Sahgal, Natasha and Van Schouwenburg, Pauline A and Schuh, Anna and Silverman, Earl and Simmons, Alison and Sorensen, Per Soelberg and Sweeney, Elizabeth and Taylor, John and Thakker, Rajesh V and Tomlinson, Ian and Trebes, Amy and Twigg, Stephen R. F and Uhlig, Holm H and Vyas, Paresh and Vyse, Tim and Wall, Steven A and Watkins, Hugh and Whyte, Michael P and Witty, Lorna and ...
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 717 - 726
Journal Article
NPJ genomic medicine, ISSN 2056-7944, 2019, Volume 4, Issue 1, pp. 5 - 12
Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the "diagnostic odyssey". Patients in... 
Chromosomes | Genomes
Journal Article
Cell, ISSN 0092-8674, 02/2012, Volume 148, Issue 4, pp. 780 - 791
Journal Article
Nature Communications, ISSN 2041-1723, 05/2016, Volume 7, pp. 11479 - 11479
Journal Article