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Analysis of protein-coding genetic variation in 60,706 humans
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
Mapping copy number variation by population-scale genome sequencing
