IBBR Publications
Found 23 results
Filters: Author is Pal, Lipika R [Clear All Filters]
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Hum Mutat. 2019 .
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 .
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 .
. . Harnessing formal concepts of biological mechanism to analyze human disease. PLoS Comput Biol. 2018 ;14(12):e1006540.
. 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 .
. . 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.
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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.
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Structural insights into the substrate binding and stereoselectivity of giardia fructose-1,6-bisphosphate aldolase. Biochemistry. 2009 ;48(14):3186-96.
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