Recent Publications on ucsc genome browser : |  | |
| Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations.
Context: The interpretation of novel missense variants is a challenge with... | 1 Institute of Biomedical and Clinical Science, Peninsula Medical School, | Genet Test Mol Biomarkers. 2010 Jul 19.
DOI Direct Link |
| BigWig and BigBed: enabling browsing of large distributed data sets.
SUMMARY: BigWig and BigBed files are compressed binary indexed files... | Center for Biomolecular Science and Engineering, School of Engineering, | Bioinformatics. 2010 Jul 17.
DOI Direct Link |
| Genome-wide Functional Element Detection Using Pairwise Statistical Alignment Outperforms Multiple Genome Footprinting Techniques.
MOTIVATION: Comparative genomic sequence analysis is a powerful approach... | Department of Statistics, Oxford University, Oxford UK. | Bioinformatics. 2010 Jul 7.
DOI Direct Link |
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
High-throughput sequencing platforms are generating massive amounts of... | Center for Applied Genomics, Children's Hospital of Philadelphia, | Nucleic Acids Res. 2010 Jul 3.
DOI Direct Link |
| methGraph: a genome visualization tool for PCR-based methylation assays.
Abnormalities in DNA methylation of CpG islands that play a role in gene... | Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. | Epigenetics. 2010 Feb;5(2):159-63. Epub 2010 Feb 11. |
Patents: |  |
| US Patent No. | Title |
| 7754428 | Fetal methylation markers |
| 7557198 | Acute myelogenous leukemia biomarkers |
| 7553947 | Method for gene identification signature (GIS) analysis |
| 7534875 | Compositions for glioma classification |
| 7485709 | Identification of a novel BHD gene |