Works matching IS 1756994X AND DT 2015 AND VI 7 AND IP 1

Results: 99

Many obesity-associated SNPs strongly associate with DNA methylation changes at proximal promoters and enhancers.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0225-4

By:

Voisin, Sarah;
Almén, Markus Sällman;
Zheleznyakova, Galina Y.;
Lundberg, Lina;
Zarei, Sanaz;
Castillo, Sandra;
Eriksson, Fia Ence;
Nilsson, Emil K.;
Blüher, Matthias;
Böttcher, Yvonne;
Kovacs, Peter;
Klovins, Janis;
Rask-Andersen, Mathias;
Schiöth, Helgi B.

Publication type:

Article

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0211-x

By:

Yun R. Li;
van Setten, Jessica;
Verma, Shefali S.;
Yontao Lu;
Holmes, Michael V.;
Hui Gao;
Lek, Monkol;
Nair, Nikhil;
Chandrupatla, Hareesh;
Baoli Chang;
Karczewski, Konrad J.;
Wong, Chanel;
Mohebnasab, Maede;
Mukhtar, Eyas;
Phillips, Randy;
Tragante, Vinicius;
Cuiping Hou;
Steel, Laura;
Takesha Lee;
Garifallou, James

Publication type:

Article

Implementing systems medicine within healthcare.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0224-5

By:

Kirschner, Marc;
Bauch, Angela;
Agusti, Alvar;
Hilke, Sebastian;
Merk, Sibylle;
Pison, Christophe;
Roldan, Jim;
Seidenath, Bernard;
Wilken, Michael;
Wouters, Emiel F.;
Mewes, Hans-Werner;
Heumann, Klaus;
Maier, Dieter

Publication type:

Article

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0221-8

By:

Miller, Neil A.;
Farrow, Emily G.;
Gibson, Margaret;
Willig, Laurel K.;
Twist, Greyson;
Yoo, Byunggil;
Marrs, Tyler;
Corder, Shane;
Krivohlavek, Lisa;
Walter, Adam;
Petrikin, Josh E.;
Saunders, Carol J.;
Thiffault, Isabelle;
Soden, Sarah E.;
Smith, Laurie D.;
Dinwiddie, Darrell L.;
Herd, Suzanne;
Cakici, Julie A.;
Catreux, Severine;
Ruehle, Mike

Publication type:

Article

Rapid metagenomic identification of viral pathogens in clinical samples by real-time nanopore sequencing analysis.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0220-9

By:

Greninger, Alexander L.;
Naccache, Samia N.;
Federman, Scot;
Guixia Yu;
Mbala, Placide;
Bres, Vanessa;
Stryke, Doug;
Bouquet, Jerome;
Somasekar, Sneha;
Linnen, Jeffrey M.;
Dodd, Roger;
Mulembakani, Prime;
Schneider, Bradley S.;
Muyembe-Tamfum, Jean-Jacques;
Stramer, Susan L.;
Chiu, Charles Y.

Publication type:

Article

The Murray collection of pre-antibiotic era Enterobacteriacae: a unique research resource.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0222-7

By:

Baker, Kate S.;
Burnett, Edward;
McGregor, Hannah;
Deheer-Graham, Ana;
Boinett, Christine;
Langridge, Gemma C.;
Wailan, Alexander M.;
Cain, Amy K.;
Thomson, Nicholas R.;
Russell, Julie E.;
Parkhill, Julian

Publication type:

Article

Targeted therapies to improve CFTR function in cystic fibrosis.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0223-6

By:

Brodlie, Malcolm;
Haq, Iram J.;
Roberts, Katie;
Elborn, J. Stuart

Publication type:

Article

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0219-2

By:

Vettore, Andre Luiz;
Ramnarayanan, Kalpana;
Poore, Gregory;
Lim, Kevin;
Choon Kiat Ong;
Kie Kyon Huang;
Hui Sun Leong;
Fui Teen Chong;
Kiat-Hon Lim, Tony;
Khong Lim, Weng;
Cutcutache, Ioana;
Mcpherson, John R.;
Yuka Suzuki;
Shenli Zhang;
Thakshayeni Skanthakumar;
Weining Wang;
Tan, Daniel SW;
Byoung Chul Cho;
Bin Tean Teh;
Rozen, Steve

Publication type:

Article

Omic personality: implications of stable transcript and methylation profiles for personalized medicine.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0209-4

By:

Tabassum, Rubina;
Sivadas, Ambily;
Agrawal, Vartika;
Tian, Haozheng;
Arafat, Dalia;
Gibson, Greg

Publication type:

Article

Gene expression meta-analysis reveals immune response convergence on the IFNγ-STAT1-IRF1 axis and adaptive immune resistance mechanisms in lymphoma.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0218-3

By:

Care, Matthew A.;
Westhead, David R.;
Tooze, Reuben M.

Publication type:

Article

Erratum to: Colorectal cancer screening: will non-invasive procedures triumph?

Published in:: 2015
Publication type:: Correction Notice

Erratum to: Why epistasis is important for tackling complex human disease genetics.

Published in:: 2015
Publication type:: Correction Notice

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0207-6

By:

Jinlian Wang;
Jun Liao;
Jinglan Zhang;
Wei-Yi Cheng;
Hakenberg, Jörg;
Meng Ma;
Webb, Bryn D.;
Ramasamudram-chakravarthi, Rajasekar;
Karger, Lisa;
Mehta, Lakshmi;
Kornreich, Ruth;
Diaz, George A.;
Shuyu Li;
Edelmann, Lisa;
Rong Chen

Publication type:

Article

Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0212-9

By:

Cornish, Alex J.;
Filippis, Ioannis;
David, Alessia;
Sternberg, Michael J. E.

Publication type:

Article

Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0212-9

By:

Cornish, Alex J.;
Filippis, Ioannis;
David, Alessia;
Sternberg, Michael J. E.

Publication type:

Article

The successful search for genetic loci associated with depression.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0217-4

By:

Rivera, Margarita;
McGuffin, Peter

Publication type:

Article

An assessment of sex bias in neurodevelopmental disorders.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0216-5

By:

Polyak, Andrew;
Rosenfeld, Jill A.;
Girirajan, Santhosh

Publication type:

Article

Pharmacological inhibition of DNA-PK stimulates Cas9-mediated genome editing.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0215-6

By:

Robert, Francis;
Barbeau, Mathilde;
Éthier, Sylvain;
Dostie, Josée;
Pelletier, Jerry

Publication type:

Article

Advancing epilepsy genetics in the genomic era.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0214-7

By:

Myers, Candace T.;
Mefford, Heather C.

Publication type:

Article

DNA methylation loci associated with atopy and high serum IgE: a genome-wide application of recursive Random Forest feature selection.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0213-8

By:

Everson, Todd M.;
Lyons, Genevieve;
Hongmei Zhang;
Soto-Ramírez, Nelís;
Lockett, Gabrielle A.;
Patil, Veeresh K.;
Merid, Simon K.;
Sӧderhӓll, Cilla;
Melén, Erik;
Holloway, John W.;
Arshad, S. Hasan;
Karmaus, Wilfried

Publication type:

Article

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0210-y

By:

Ryland, Georgina L.;
Hunter, Sally M.;
Doyle, Maria A.;
Caramia, Franco;
Li, Jason;
Rowley, Simone M.;
Christie, Michael;
Allan, Prue E.;
Stephens, Andrew N.;
Bowtell, David D. L.;
Campbell, Ian G.;
Gorringe, Kylie L.

Publication type:

Article

Proteogenomic analysis of psoriasis reveals discordant and concordant changes in mRNA and protein abundance.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0208-5

By:

Swindell, William R.;
Remmer, Henriette A.;
Sarkar, Mrinal K.;
Xianying Xing;
Barnes, Drew H.;
Wolterink, Liza;
Voorhees, John J.;
Nair, Rajan P.;
Johnston, Andrew;
Elder, James T.;
Gudjonsson, Johann E.

Publication type:

Article

Use of semantic workflows to enhance transparency and reproducibility in clinical omics.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0202-y

By:

Zheng, Christina L.;
Ratnakar, Varun;
Gil, Yolanda;
McWeeney, Shannon K.

Publication type:

Article

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0197-4

By:

Patwardhan, Anil;
Harris, Jason;
Nan Leng;
Bartha, Gabor;
Church, Deanna M.;
Shujun Luo;
Haudenschild, Christian;
Pratt, Mark;
Zook, Justin;
Salit, Marc;
Tirch, Jeanie;
Massimo Morra;
Chervitz, Stephen;
Ming Li;
Clark, Michael;
Garcia, Sarah;
Chandratillake, Gemma;
Kirk, Scott;
Ashley, Euan;
Snyder, Michael

Publication type:

Article

Genomic prediction of celiac disease targeting HLA-positive individuals.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0196-5

By:

Abraham, Gad;
Rohmer, Alexia;
Tye-Din, Jason A.;
Inouye, Michael

Publication type:

Article

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0195-6

By:

Münz, Márton;
Ruark, Elise;
Renwick, Anthony;
Ramsay, Emma;
Clarke, Matthew;
Mahamdallie, Shazia;
Cloke, Victoria;
Seal, Sheila;
Strydom, Ann;
Lunter, Gerton;
Rahman, Nazneen

Publication type:

Article

Erratum to: Brave new epigenomes: the dawn of epigenetic engineering.

Published in:

2015

By:

Köferle, Anna;
Stricker, Stefan H.;
Beck, Stephan

Publication type:

Correction Notice

ENVE: a novel computational framework characterizes copy-number mutational landscapes in colorectal cancers from African American patients.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0192-9

By:

Varadan, Vinay;
Singh, Salendra;
Nosrati, Arman;
Ravi, Lakshmeswari;
Lutterbaugh, James;
Barnholtz-Sloan, Jill S.;
Markowitz, Sanford D.;
Willis, Joseph E.;
Guda, Kishore

Publication type:

Article

Explaining, not just predicting, drives interest in personal genomics.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0188-5

By:

Meisel, Susanne F.;
Carere, Deanna Alexis;
Wardle, Jane;
Kalia, Sarah S.;
Moreno, Tanya A.;
Mountain, Joanna L.;
Roberts, J. Scott;
Green, Robert C.

Publication type:

Article

Brave new epigenomes: the dawn of epigenetic engineering.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0185-8

By:

Köferle, Anna;
Stricker, Stefan H.;
Beck, Stephan

Publication type:

Article

Mechanistic insights revealed by lipid profiling in monogenic insulin resistance syndromes.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0179-6

By:

Eiden, Michael;
Koulman, Albert;
Hatunic, Mensud;
West, James A.;
Murfitt, Steven;
Osei, Michael;
Adams, Claire;
Xinzhu Wang;
Yajing Chu;
Marney, Luke;
Roberts, Lee D.;
O'Rahilly, Stephen;
Semple, Robert K.;
Savage, David B.;
Griffin, Julian L.

Publication type:

Article

Global genetic carrier testing: a vision for the future.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0204-9

By:

Beaudet, Arthur L.

Publication type:

Article

Next-generation sequencing to guide cancer therapy.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0203-x

By:

Gagan, Jeffrey;
Van Allen, Eliezer M.

Publication type:

Article

Emergency medical genomes: a breakthrough application of precision medicine.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0201-z

By:

Kingsmore, Stephen F.;
Petrikin, Josh;
Willig, Laurel K.;
Guest, Erin

Publication type:

Article

From genes to genomes in the clinic.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0200-0

By:

Veltman, Joris A.;
Lupski, James R.

Publication type:

Article

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0199-2

By:

Smedley, Damian;
Robinson, Peter N.

Publication type:

Article

So rare we need to hunt for them: reframing the ethical debate on incidental findings.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0198-3

By:

Schuol, Sebastian;
Schickhardt, Christoph;
Wiemann, Stefan;
Bartram, Claus R.;
Tanner, Klaus;
Eils, Roland;
Meder, Benjamin;
Richter, Daniela;
Glimm, Hanno;
von Kalle, Christof;
Winkler, Eva C.

Publication type:

Article

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0191-x

By:

Sadedin, Simon P.;
Dashnow, Harriet;
James, Paul A.;
Bahlo, Melanie;
Bauer, Denis C.;
Lonie, Andrew;
Lunke, Sebastian;
Macciocca, Ivan;
Ross, Jason P.;
Siemering, Kirby R.;
Stark, Zornitza;
White, Susan M.;
Alliance, Melbourne Genomics Health;
Taylor, Graham;
Gaff, Clara;
Oshlack, Alicia;
Thorne, Natalie P.

Publication type:

Article

BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0190-y

By:

Mueller, Sabine C.;
Backes, Christina;
Kalinina, Olga V.;
Meder, Benjamin;
Stöckel, Daniel;
Lenhof, Hans-Peter;
Meese, Eckart;
Keller, Andreas

Publication type:

Article

Inferring pathway dysregulation in cancers from multiple types of omic data.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0189-4

By:

MacNeil, Shelley M.;
Johnson, William E.;
Dean Y. Li;
Piccolo, Stephen R.;
Bild, Andrea H.

Publication type:

Article

Transferring genomics to the clinic: distinguishing Burkitt and diffuse large B cell lymphomas.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0187-6

By:

Chulin Sha;
Barrans, Sharon;
Care, Matthew A.;
Cunningham, David;
Tooze, Reuben M.;
Jack, Andrew;
Westhead, David R.

Publication type:

Article

Restoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degeneration.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0183-x

By:

Radeke, Monte J.;
Radeke, Carolyn M.;
Ying-Hsuan Shih;
Jane Hu;
Dean Bok;
Johnson, Lincoln V.;
Coffey, Pete J.

Publication type:

Article

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0181-z

By:

Crosslin, David R.;
Robertson, Peggy D.;
Carrell, David S.;
Gordon, Adam S.;
Hanna, David S.;
Burt, Amber;
Fullerton, Stephanie M.;
Scrol, Aaron;
Ralston, James;
Leppig, Kathleen;
Hartzler, Andrea;
Baldwin, Eric;
de Andrade, Mariza;
Kullo, Iftikhar J.;
Tromp, Gerard;
Doheny, Kimberly F.;
Ritchie, Marylyn D.;
Crane, Paul K.;
Nickerson, Deborah A.;
Larson, Eric B.

Publication type:

Article

The oxidative demethylase ALKBH3 marks hyperactive gene promoters in human cancer cells.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0180-0

By:

Liefke, Robert;
Windhof-Jaidhauser, Indra M.;
Gaedcke, Jochen;
Salinas-Riester, Gabriela;
Feizhen Wu;
Ghadimi, Michael;
Sebastian Dango

Publication type:

Article

Virulence genes are a signature of the microbiome in the colorectal tumor microenvironment.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0177-8

By:

Burns, Michael B.;
Lynch, Joshua;
Starr, Timothy K.;
Knights, Dan;
Blekhman, Ran

Publication type:

Article

Phylogenetically typing bacterial strains from partial SNP genotypes observed from direct sequencing of clinical specimen metagenomic data.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0176-9

By:

Sahl, Jason W.;
Schupp, James M.;
Rasko, David A.;
Colman, Rebecca E.;
Foster, Jeffrey T.;
Keim, Paul

Publication type:

Article

The future of genomic medicine education in Africa.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0175-x

By:

Siwo, Geoffrey H.;
Williams, Scott M.;
Moore, Jason H.

Publication type:

Article

Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0172-0

By:

Seitz, Tina;
Stalmann, Robert;
Dalila, Nawar;
Jiayin Chen;
Pojar, Sherin;
Dos Santos Pereira, Joao N.;
Krätzner, Ralph;
Brockmöller, Jürgen;
Tzvetkov, Mladen V.

Publication type:

Article

Secondary findings and carrier test frequencies in a large multiethnic sample.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0171-1

By:

Gambin, Tomasz;
Jhangiani, Shalini N.;
Below, Jennifer E.;
Campbell, Ian M.;
Wiszniewski, Wojciech;
Muzny, Donna M.;
Staples, Jeffrey;
Morrison, Alanna C.;
Bainbridge, Matthew N.;
Penney, Samantha;
McGuire, Amy L.;
Gibbs, Richard A.;
Lupski, James R.;
Boerwinkle, Eric

Publication type:

Article

A bioinformatic framework for immune repertoire diversity profiling enables detection of immunological status.

Published in:

Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0169-8

By:

Greiff, Victor;
Bhat, Pooja;
Cook, Skylar C.;
Menzel, Ulrike;
Wenjing Kang;
Reddy, Sai T.

Publication type:

Article