Steven A McCarroll · researcher · YYNN

Steven A McCarroll

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researcher

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Works
10

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

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.

scientific article

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.

scientific article

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.

scientific article

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

scientific article

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

scientific article

Mapping copy number variation by population-scale genome sequencing

scientific article

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