Category: 2014

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity M
By April 1, 2015

Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R (2014) Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity. Human Mol. Genetics. 24(7):1908-17

Read on
Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions E
By October 2, 2014

Sharma N, Sosnay PR, Ramalho AS, Douville C, Franca A, Gottschalk LB, Park J, Lee M, Vecchio-Pagan B, Siklosi K, Amaral MD, Karchin R, Cutting G (2014) Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions Human Mutation. 35(10):1249-59

Read on
Human bile contains microRNA-laden extracellular vesicles that can be used for cholangiocarcinoma diagnosis H
By September 2, 2014

Li L, Masica DL, Ishida M, Tomuleasa C, Umegak S, Kalloo AN, Georgiades C, Singh VK, Khashab M, Amateau S, Li Z, Okolo P, Lennon AM, Saxena P, Geschwind JF, Schlachter T, Hong K, Pawlik TM, Canto M, Law J, Sharaiha R, Weiss CR, Peng H, Thuluvath P, Goggins M, Shin EJ, Kumbhari V, Hutfless …

Read on
A probabilistic model to predict clinical phenotypic traits from genome sequencing A
By February 4, 2014

Chen YC, Douville C, Wang C, Niknafs N, Yeo G, Beleva-Guthrie V, Carter H, Stenson PD, Cooper DN, Li B, Mooney S, Karchin R (2014) A probabilistic model to predict clinical phenotypic traits from genome sequencing. PLoS Computational Biology. Sep 4. 10(9):e1003825

Read on
Predicting the functional consequences of somatic missense mutations found in tumors P
By January 2, 2014

Carter H, Karchin R (2014) Predicting the functional consequences of somatic missense mutations found in tumors. Methods in Molecular Biology, Gene Function Analysis, 2nd Edition), Ed. Ochs MF. Humana Press

Read on