Found 14 results
Filters: Author is Pal, Lipika R [Clear All Filters]
3Lessons from the CAGI-4 Hopkins clinical panel challenge. Hum Mutat. 2017 .
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. Hum Mutat. 2017 ..
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. Hum Mutat. 2017 ..
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Hum Mutat. 2017 ..
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. Hum Mutat. 2017 ..
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Hum Mutat. 2017 .
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 .
Reply to HU et al.: On the interpretation of gasdermin-B expression quantitative trait loci data. Proc Natl Acad Sci U S A. 2017 ;114(38):E7863-E7864..
Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. J Mol Biol. 2015 ;427(13):2271-89..
Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease. BMC Genomics. 2015 ;16 Suppl 8:S4..
Structural insights into the substrate binding and stereoselectivity of giardia fructose-1,6-bisphosphate aldolase. Biochemistry. 2009 ;48(14):3186-96..