Zobrazeno 1 - 6
of 6
pro vyhledávání: '"1000 Genomes Project, C."'
Autor:
Zheng-Bradley, X., Streeter, I., Fairley, S., Richardson, D., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.
Publikováno v:
GigaScience
The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of five years. In its final phase, the project released over 85 million genotyped and phased variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b188c05d96cc652e2ea9b6b8472d2c
https://pubmed.ncbi.nlm.nih.gov/28531267
https://pubmed.ncbi.nlm.nih.gov/28531267
Autor:
Gardner, E., Lam, V., Harris, D., Chuang, N., Scott, E., Pittard, W., Mills, R., 1000 Genomes Project, C., Timmermann, B., Devine, S.
Publikováno v:
Genome research (2017): 1916–1929. doi:10.1101/gr.218032.116
info:cnr-pdr/source/autori:Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, Mills RE; 1000 Genomes Project Consortium, Devine SE./titolo:The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology./doi:10.1101%2Fgr.218032.116/rivista:Genome research/anno:2017/pagina_da:1916/pagina_a:1929/intervallo_pagine:1916–1929/volume
Genome Research
info:cnr-pdr/source/autori:Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, Mills RE; 1000 Genomes Project Consortium, Devine SE./titolo:The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology./doi:10.1101%2Fgr.218032.116/rivista:Genome research/anno:2017/pagina_da:1916/pagina_a:1929/intervallo_pagine:1916–1929/volume
Genome Research
Mobile element insertions (MEIs) represent ∼25% of all structural variants in human genomes. Moreover, when they disrupt genes, MEIs can influence human traits and diseases. Therefore, MEIs should be fully discovered along with other forms of genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51881ba82d6ac79c4d51b301833a548
https://publications.cnr.it/doc/378508
https://publications.cnr.it/doc/378508
Autor:
Lowy-Gallego, E., Fairley, S., Zheng-Bradley, X., Ruffier, M., Clarke, L., Flicek, P., 1000 Genomes Project , C., Timmermann, B.
Publikováno v:
Wellcome Open Research (open access publishing platform)
Wellcome Open Research
Wellcome Open Research
We present a set of biallelic SNVs and INDELs, from 2,548 samples spanning 26 populations from the 1000 Genomes Project, called de novo on GRCh38. We believe this will be a useful reference resource for those using GRCh38. It represents an improvemen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cec2bec1a67a81572fe5589c27a1ae0
https://doi.org/10.12688/wellcomeopenres.15126.1
https://doi.org/10.12688/wellcomeopenres.15126.1
Autor:
Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project, C., Herwig, R., Lehrach, H., Sudbrak, R., Timmermann, B., Mittelman, D., Erlich, Y.
Publikováno v:
Genome Research
Cold Spring Harbor Laboratory Press
Cold Spring Harbor Laboratory Press
Short tandem repeats are among the most polymorphic loci in the human genome. These loci play a role in the etiology of a range of genetic diseases and have been frequently utilized in forensics, population genetics, and genetic genealogy. Despite th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a25b660440461593f82286267bf330e
Autor:
Abyzov, A., Iskow, R., Gokcumen, O., Radke, D., Balasubramanian, S., Pei, B., Habegger, L., 1000 Genomes Project, C., Timmermann, B., Lee, C., Gerstein, M.
Publikováno v:
Genome Research
In primates and other animals, reverse transcription of mRNA followed by genomic integration creates retroduplications. Expressed retroduplications are either “retrogenes” coding for functioning proteins, or expressed “processed pseudogenes,”
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::b5de20d034d177d2c2b3cf2b63495ca2
https://hdl.handle.net/11858/00-001M-0000-0027-B2F4-D11858/00-001M-0000-0027-B2F2-2
https://hdl.handle.net/11858/00-001M-0000-0027-B2F4-D11858/00-001M-0000-0027-B2F2-2
Autor:
Khurana, E., Fu, Y., Colonna, V., Mu, X., Kang, H., Lappalainen, T., Sboner, A., Lochovsky, L., Chen, J., Harmanci, A., Das, J., Abyzov, A., Balasubramanian, S., Beal, K., Chakravarty, D., Challis, D., Chen, Y., Clarke, D., Clarke, L., Cunningham, F., Evani, U., Flicek, P., Fragoza, R., Garrison, E., Gibbs, R., Gumus, Z., Herrero, J., Kitabayashi, N., Kong, Y., Lage, K., Liluashvili, V., Lipkin, S., MacArthur, D., Marth, G., Muzny, D., Pers, T., Ritchie, G., Rosenfeld, J., Sisu, C., Wei, X., Wilson, M., Xue, Y., Yu, F., 1000 Genomes Project, C., Lehrach, H., Sudbrak, R., Albrecht, M., Amstislavskiy, V., Borodina, T., Lienhard, M., Mertes, F., Sultan, M., Timmermann, B., Yaspo, M., Dermitzakis, E., Yu, H., Rubin, M., Tyler-Smith, C., Gerstein, M.
Publikováno v:
Science, Vol. 342, No 6154 (2013) P. 1235587
Science (N. Y., N.Y.) 342 (2013): 84–+. doi:10.1126/science.1235587
info:cnr-pdr/source/autori:Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S.; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Guemues, Zeynep H.; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M.; MacArthur, Daniel G.; Marth, Gabor; Muzny, Donna; Pers, Tune H.; Ritchie, Graham R. S.; Rosenfeld, Jeffrey A.; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T.; Yu, Haiyuan; Rubin, Mark A.; Tyler-Smith, Chris; Gerstein, Mark/titolo:Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics/doi:10.1126%2Fscience.1235587/rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:84/pagina_a:+/intervallo_pagine:84–+/volume:342
PMC
Science
Science (N. Y., N.Y.) 342 (2013): 84–+. doi:10.1126/science.1235587
info:cnr-pdr/source/autori:Khurana, Ekta; Fu, Yao; Colonna, Vincenza; Mu, Xinmeng Jasmine; Kang, Hyun Min; Lappalainen, Tuuli; Sboner, Andrea; Lochovsky, Lucas; Chen, Jieming; Harmanci, Arif; Das, Jishnu; Abyzov, Alexej; Balasubramanian, Suganthi; Beal, Kathryn; Chakravarty, Dimple; Challis, Daniel; Chen, Yuan; Clarke, Declan; Clarke, Laura; Cunningham, Fiona; Evani, Uday S.; Flicek, Paul; Fragoza, Robert; Garrison, Erik; Gibbs, Richard; Guemues, Zeynep H.; Herrero, Javier; Kitabayashi, Naoki; Kong, Yong; Lage, Kasper; Liluashvili, Vaja; Lipkin, Steven M.; MacArthur, Daniel G.; Marth, Gabor; Muzny, Donna; Pers, Tune H.; Ritchie, Graham R. S.; Rosenfeld, Jeffrey A.; Sisu, Cristina; Wei, Xiaomu; Wilson, Michael; Xue, Yali; Yu, Fuli; Dermitzakis, Emmanouil T.; Yu, Haiyuan; Rubin, Mark A.; Tyler-Smith, Chris; Gerstein, Mark/titolo:Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics/doi:10.1126%2Fscience.1235587/rivista:Science (N. Y., N.Y.)/anno:2013/pagina_da:84/pagina_a:+/intervallo_pagine:84–+/volume:342
PMC
Science
Identifying Important Identifiers Each of us has millions of sequence variations in our genomes. Signatures of purifying or negative selection should help identify which of those variations is functionally important. Khurana et al. ( 1235587 ) used s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed289199d0df8db0bb670ebaea2adeb8
https://archive-ouverte.unige.ch/unige:90279
https://archive-ouverte.unige.ch/unige:90279