Integrating clinical and laboratory data in genetic studies of complex phenotypes: a network-based data management system

Autor: F J, McMahon, C J, Thomas, R J, Koskela, T S, Breschel, T C, Hightower, N, Rohrer, C, Savino, M G, McInnis, S G, Simpson, J R, DePaulo

Publikováno v: American journal of medical genetics. 81(3)

The identification of genes underlying a complex phenotype can be a massive undertaking, and may require a much larger sample size than thought previously. The integration of such large volumes of clinical and laboratory data has become a major chall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c38a92a561a03267eff203260804df48
https://pubmed.ncbi.nlm.nih.gov/9603614

Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis

Autor: Henkjan J. Verkade, Cleo C. van Diemen, Sjoukje-Marije Haisma, Obbe F. Norbruis, Barbara A. E. de Koning, Rinse K. Weersma, Bart G. P. Koot, Jukka Koskela, Marijn C. Visschedijk, Christine Stevens, Manuel A. Rivas, Tim G. J. de Meij, Ruggero Barbieri, Eleonora A. M. Festen, Mark J. Daly, Victorien M. Wolters, Patrick F. van Rheenen, Maria E. Joosse, Ramnik J. Xavier, Dianne Jansen

Publikováno v: Liver International. Wiley
Liver international, 41(5), 1044-1057. Wiley-Blackwell
Liver International, 41(5), 1044-1057. Wiley-Blackwell Publishing Ltd
Haisma, S-M, Weersma, R K, Joosse, M E, de Koning, B A E, de Meij, T, Koot, B G P, Wolters, V, Norbruis, O, Daly, M J, Stevens, C, Xavier, R J, Koskela, J, Rivas, M A, Visschedijk, M C, Verkade, H J, Barbieri, R, Jansen, D B H, Festen, E A M, van Rheenen, P F & van Diemen, C C 2021, ' Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis ', Liver International, vol. 41, no. 5, pp. 1044-1057 . https://doi.org/10.1111/liv.14831
Liver International
Liver International, 41(5), 1044-1057. Wiley-Blackwell

BACKGROUND & AIMS: Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole-exome sequencing (WES) has contributed to understanding the molecular basis of very early-onset IBD,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e15a5798fae6fd996d88d4f01b0b0a
https://research.rug.nl/en/publications/b71feb2a-c6ae-4606-b1b4-5a2d03b6fdb0

Methods for “Indirect” challenge tests including exercise, eucapnic voluntary hyperpnea, and hypertonic aerosols.

Autor: Anderson, Sandra, Brannan, John

Publikováno v: Clinical Reviews in Allergy & Immunology; Feb2003, Vol. 24 Issue 1, p27-54, 28p

Strategic Management of Information Systems in Healthcare

Autor: Brown, Gordon D., Stone, Tamara, Patrick, Timothy B.