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Increase of functional diversity by alternative splicing.
Small fitness effect of mutations in highly conserved non-coding regions.
From analysis of protein structural alignments toward a novel approach to align protein sequences.
Proportionally more deleterious genetic variation in European than in African populations.
Predicting functional effect of human missense mutations using PolyPhen-2.
Inferring SNP function using evolutionary, structural, and computational methods.
Computational and statistical approaches to analyzing variants identified by exome sequencing.
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations.
Protein identification pipeline for the homology-driven proteomics.
SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs.
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
Network-based inference from complex proteomic mixtures using SNIPE.
Powering whole genome sequence-based genetic discovery for common human diseases
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Lessons from the CAGI-4 Hopkins clinical panel challenge.
A literature review at genome scale: improving clinical variant assessment.
Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies.
Identification of cancer driver genes based on nucleotide context.
Molecular Biology Computational