Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Elliott H Margulies"'
Autor:
Yoichiro Shibata, Nathan C Sheffield, Olivier Fedrigo, Courtney C Babbitt, Matthew Wortham, Alok K Tewari, Darin London, Lingyun Song, Bum-Kyu Lee, Vishwanath R Iyer, Stephen C J Parker, Elliott H Margulies, Gregory A Wray, Terrence S Furey, Gregory E Crawford
Publikováno v:
PLoS Genetics, Vol 8, Iss 6, p e1002789 (2012)
Understanding the molecular basis for phenotypic differences between humans and other primates remains an outstanding challenge. Mutations in non-coding regulatory DNA that alter gene expression have been hypothesized as a key driver of these phenoty
Externí odkaz:
https://doaj.org/article/9e59bc8a7ca044b99408318226a660e2
Autor:
Stephen C J Parker, Jared Gartner, Isabel Cardenas-Navia, Xiaomu Wei, Hatice Ozel Abaan, Subramanian S Ajay, Nancy F Hansen, Lingyun Song, Umesh K Bhanot, J Keith Killian, Yevgeniy Gindin, Robert L Walker, Paul S Meltzer, James C Mullikin, Terrence S Furey, Gregory E Crawford, Steven A Rosenberg, Yardena Samuels, Elliott H Margulies
Publikováno v:
PLoS Genetics, Vol 8, Iss 8, p e1002871 (2012)
Much emphasis has been placed on the identification, functional characterization, and therapeutic potential of somatic variants in tumor genomes. However, the majority of somatic variants lie outside coding regions and their role in cancer progressio
Externí odkaz:
https://doaj.org/article/c2a545e050c64392b218f99a77987a41
Autor:
Rachel L Goldfeder, Stephen C J Parker, Subramanian S Ajay, Hatice Ozel Abaan, Elliott H Margulies
Publikováno v:
PLoS ONE, Vol 6, Iss 8, p e23683 (2011)
The ability to generate whole genome data is rapidly becoming commoditized. For example, a mammalian sized genome (∼3Gb) can now be sequenced using approximately ten lanes on an Illumina HiSeq 2000. Since lanes from different runs are often combine
Externí odkaz:
https://doaj.org/article/0f631d693d224570b1438c98354644ec
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8407 (2009)
BACKGROUND: Despite the short length of their reads, micro-read sequencing technologies have shown their usefulness for de novo sequencing. However, especially in eukaryotic genomes, complex repeat patterns are an obstacle to large assemblies. PRINCI
Externí odkaz:
https://doaj.org/article/d1e69e40176847b89167f7b8fd9a9da0
Autor:
Sergey Nikolaev, Juan I Montoya-Burgos, Elliott H Margulies, NISC Comparative Sequencing Program, Jacques Rougemont, Bruno Nyffeler, Stylianos E Antonarakis
Publikováno v:
PLoS Genetics, Vol 3, Iss 1, p e2 (2007)
Understanding the early evolution of placental mammals is one of the most challenging issues in mammalian phylogeny. Here, we addressed this question by using the sequence data of the ENCODE consortium, which include 1% of mammalian genomes in 18 spe
Externí odkaz:
https://doaj.org/article/81057caecb8242b88291f785c00aec6f
Publikováno v:
BCB
Sequencing an individual genome typically produces approximately three million variants compared to the human reference genome. The consequence for each variant depends on the location and nature of the variant and is a key question for genetic analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cf00a19ab2beeb2ce95a5266c6b6c39
https://doi.org/10.1145/3107411.3108204
https://doi.org/10.1145/3107411.3108204
Autor:
Xiaomu Wei, Elliott H. Margulies, Michael A. Davies, Jeffrey E. Gershenwald, Nicholas K. Hayward, Stephen C. J. Parker, Yardena Samuels, Todd D. Prickett, Jiji Jiang, Steven E. Robinson, J. Lin, Ken Dutton-Regester, Guo-Yong Chen, Brad Zerlanko, Steven A. Rosenberg, Jared J. Gartner, Jamie K. Teer, William A. Robinson
Publikováno v:
The Journal of investigative dermatology
Patients with advanced metastatic melanoma have poor prognosis and the genetics underlying its pathogenesis are poorly understood. High-throughput sequencing has allowed comprehensive discovery of somatic mutations in cancer samples. Here, on analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358bd3d46d07af020b7bf197b003d504
Autor:
Steven A. Rosenberg, Quino Maduro, Sean Lovett, Hannah Carter, Laura Elnitski, Sean Davis, Betty Benjamin, Nicholas K. Hayward, J. Lin, Michael D. Gregory, Chava Kimchi-Sarfaty, James Thomas, Michael A. Davies, Michael L. Stitzel, Rachel Karchin, Alice Young, Pam Thomas, Xiaobin Guan, Casandra Montemayor, Jesse Becker, Jamie K. Teer, Nancy Riebow, Shelise Brooks, Elliott H. Margulies, Gerry Bouffard, Holly Coleman, Jyoti Gupta, Brian L. Schmidt, Morgan Park, James C. Mullikin, Karen Schandler, Francis S. Collins, Cathy Masiello, Xiaomu Wei, Baishali Maskeri, Sujata Jha, William A. Robinson, Richelle Legaspi, Yardena Samuels, Shi-ling Ho, Steven E. Robinson, Christina Sison, Ken Dutton-Regester, Meg Vemulapalli, Todd D. Prickett, Jenny McDowell, Valer Gotea, Taccara Johnson, Nobuko H. Katagiri, Robert W. Blakesley, Umesh Bhanot, Guo Chen, Vijaya L. Simhadri, Stephen C. J. Parker, Jared J. Gartner, Mal Stantripop, Mila Dekhtyar, Jeffrey E. Gershenwald, Joel Han, Mario A. Morken, Giovanni Parmigiani, April Hargrove, Anton A. Komar
Publikováno v:
Proceedings of the National Academy of Sciences. 110:13481-13486
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683–691]. However, synonymous mutations are rarely investigated in the cancer genomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73128767d86eb42c6e030e181b9b629f
https://doi.org/10.1073/pnas.1304227110
https://doi.org/10.1073/pnas.1304227110
Autor:
David Goldstein, Andrew S. Allen, Jonathan E. M. Keebler, Shamil R. Sunyaev, Slavé Petrovski, Steven Petrou, Elliott H. Margulies
Publikováno v:
Nature Reviews Genetics. 14:460-470
Next-gene ration sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a704db995e733f5ff3175230317332ee
https://doi.org/10.1038/nrg3455
https://doi.org/10.1038/nrg3455
Autor:
Benjamin L. Moore, Gil McVean, Elliott H. Margulies, Zamin Iqbal, Epameinondas Fritzilas, Michael A. Eberle, Han-Yu Chuang, Aaron L. Halpern, Sean Humphray, David R. Bentley, Peter Krusche, Morten Källberg, Semyon Kruglyak, Mitchell A. Bekritsky
Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalogue of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep, whole-genome sequence data of seventeen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cec4fd17cd2d9439ba1f450a59596d6e
https://doi.org/10.1101/055541
https://doi.org/10.1101/055541
