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Items: 1 to 20 of 218

1.

COGNATE: comparative gene annotation characterizer.

Wilbrandt J, Misof B, Niehuis O.

BMC Genomics. 2017 Jul 17;18(1):535. doi: 10.1186/s12864-017-3870-8.

2.

Context Is Everything: Harmonization of Critical Food Microbiology Descriptors and Metadata for Improved Food Safety and Surveillance.

Griffiths E, Dooley D, Graham M, Van Domselaar G, Brinkman FSL, Hsiao WWL.

Front Microbiol. 2017 Jun 26;8:1068. doi: 10.3389/fmicb.2017.01068. eCollection 2017.

3.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.

Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.

4.

CHOmine: an integrated data warehouse for CHO systems biology and modeling.

Gerstl MP, Hanscho M, Ruckerbauer DE, Zanghellini J, Borth N.

Database (Oxford). 2017 Jan 1;2017. doi: 10.1093/database/bax034.

5.

Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.

Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.

6.

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.

Sigurdsson S, Alexandersson KF, Sulem P, Feenstra B, Gudmundsdottir S, Halldorsson GH, Olafsson S, Sigurdsson A, Rafnar T, Thorgeirsson T, Sørensen E, Nordholm-Carstensen A, Burcharth J, Andersen J, Jørgensen HS, Possfelt-Møller E, Ullum H, Thorleifsson G, Masson G, Thorsteinsdottir U, Melbye M, Gudbjartsson DF, Stefansson T, Jonsdottir I, Stefansson K.

Nat Commun. 2017 Jun 6;8:15789. doi: 10.1038/ncomms15789.

7.

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, Matchan A, Rayner NW, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E.

Nat Commun. 2017 May 26;8:15606. doi: 10.1038/ncomms15606.

8.

A geographically-diverse collection of 418 human gut microbiome pathway genome databases.

Hahn AS, Altman T, Konwar KM, Hanson NW, Kim D, Relman DA, Dill DL, Hallam SJ.

Sci Data. 2017 Apr 11;4:170035. doi: 10.1038/sdata.2017.35.

9.

Prioritisation of structural variant calls in cancer genomes.

Ahdesmäki MJ, Chapman BA, Cingolani P, Hofmann O, Sidoruk A, Lai Z, Zakharov G, Rodichenko M, Alperovich M, Jenkins D, Carr TH, Stetson D, Dougherty B, Barrett JC, Johnson JH.

PeerJ. 2017 Apr 4;5:e3166. doi: 10.7717/peerj.3166. eCollection 2017.

10.

Combining clinical and genomics queries using i2b2 - Three methods.

Murphy SN, Avillach P, Bellazzi R, Phillips L, Gabetta M, Eran A, McDuffie MT, Kohane IS.

PLoS One. 2017 Apr 7;12(4):e0172187. doi: 10.1371/journal.pone.0172187. eCollection 2017.

11.

SilkPathDB: a comprehensive resource for the study of silkworm pathogens.

Li T, Pan GQ, Vossbrinck CR, Xu JS, Li CF, Chen J, Long MX, Yang M, Xu XF, Xu C, Debrunner-Vossbrinck BA, Zhou ZY.

Database (Oxford). 2017 Jan 1;2017(1). doi: 10.1093/database/bax001.

12.

A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, Hasegawa H, Brown M, Ketchem RR, Gavala M, Garrett L, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Eyjolfsson GI, Olafsson I, Onundarson PT, Sigurdardottir O, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Boezen HM, Heinzmann A, Krueger M, Porsbjerg C, Ahluwalia TS, Waage J, Backer V, Deichmann KA, Koppelman GH, Bønnelykke K, Bisgaard H, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Johnston JA, Jonsdottir I, Stefansson K.

PLoS Genet. 2017 Mar 8;13(3):e1006659. doi: 10.1371/journal.pgen.1006659. eCollection 2017 Mar.

13.

ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data.

Gonzalez S, Clavijo B, Rivarola M, Moreno P, Fernandez P, Dopazo J, Paniego N.

BMC Bioinformatics. 2017 Feb 22;18(1):121. doi: 10.1186/s12859-017-1494-2.

14.

Opportunities and challenges of whole-genome and -exome sequencing.

Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A.

BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5. Review.

15.

CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.

Griffith M, Spies NC, Krysiak K, McMichael JF, Coffman AC, Danos AM, Ainscough BJ, Ramirez CA, Rieke DT, Kujan L, Barnell EK, Wagner AH, Skidmore ZL, Wollam A, Liu CJ, Jones MR, Bilski RL, Lesurf R, Feng YY, Shah NM, Bonakdar M, Trani L, Matlock M, Ramu A, Campbell KM, Spies GC, Graubert AP, Gangavarapu K, Eldred JM, Larson DE, Walker JR, Good BM, Wu C, Su AI, Dienstmann R, Margolin AA, Tamborero D, Lopez-Bigas N, Jones SJ, Bose R, Spencer DH, Wartman LD, Wilson RK, Mardis ER, Griffith OL.

Nat Genet. 2017 Jan 31;49(2):170-174. doi: 10.1038/ng.3774. No abstract available.

16.

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL, Garcia S, Montana A, Harris J, Chervitz S, Morra M, West J, Chen R, Church DM.

Genome Med. 2017 Jan 26;9(1):7. doi: 10.1186/s13073-016-0396-7.

17.

Identification of RAN1 orthologue associated with sex determination through whole genome sequencing analysis in fig (Ficus carica L.).

Mori K, Shirasawa K, Nogata H, Hirata C, Tashiro K, Habu T, Kim S, Himeno S, Kuhara S, Ikegami H.

Sci Rep. 2017 Jan 25;7:41124. doi: 10.1038/srep41124.

18.

The development of non-coding RNA ontology.

Huang J, Eilbeck K, Smith B, Blake JA, Dou D, Huang W, Natale DA, Ruttenberg A, Huan J, Zimmermann MT, Jiang G, Lin Y, Wu B, Strachan HJ, de Silva N, Kasukurthi MV, Jha VK, He Y, Zhang S, Wang X, Liu Z, Borchert GM, Tan M.

Int J Data Min Bioinform. 2016;15(3):214-232.

19.

DNA Data Bank of Japan.

Mashima J, Kodama Y, Fujisawa T, Katayama T, Okuda Y, Kaminuma E, Ogasawara O, Okubo K, Nakamura Y, Takagi T.

Nucleic Acids Res. 2017 Jan 4;45(D1):D25-D31. doi: 10.1093/nar/gkw1001. Epub 2016 Oct 24.

20.

The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching.

Howe DG, Bradford YM, Eagle A, Fashena D, Frazer K, Kalita P, Mani P, Martin R, Moxon ST, Paddock H, Pich C, Ramachandran S, Ruzicka L, Schaper K, Shao X, Singer A, Toro S, Van Slyke C, Westerfield M.

Nucleic Acids Res. 2017 Jan 4;45(D1):D758-D768. doi: 10.1093/nar/gkw1116. Epub 2016 Nov 28.

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