A near-complete list of publications is available from my Google Scholar page.
Below is a selection of publications that give a sense of some of our directions in the past. All manuscripts selected are either for a first or senior authorship from the Purcell lab. Most of this work was produced within the context of large consortia involving many collaborators: the primary groups are listed on the projects page.
This describes PLINK, a widely used software package for genome-wide association studies. We also introduced a novel approach to genome mapping based on identity-by-descent (IBD) information between very distantly related individuals.
One of the first large-scale genome-wide association studies of schizophrenia, here we made the observation that many common variants of very small effect appear to contribute to the heritability of schizophrenia. Most of these risk alleles are individually unlikely to be detectable, at least at currently feasible sample sizes.
Reliably calling copy number variation from targeted sequencing data can be challenging. Here we present and evaluate a robust pipeline that overcomes many of the challenges that arise when trying to infer ploidy from sequencing read depth in exome sequencing studies.
Using genome-wide single nucleotide polymorphism arrays, we demonstrated an increased genome-wide burden of rare deletions and duplications (copy number variants, CNV) in patients with schizophrenia compared to controls. We also identified specific genomic loci at which CNVs pile up, namely 22q11, 15q13 and 1q21. [commentaries here and here]
This Review considers approaches and interpretations of the often "one-to-many" nature of genotype-to-phenotype associations in complex disease. Nadia Solovieff was a postdoctoral researcher in the Purcell lab, jointly with Dr. Jordan Smoller's group.
This manuscript was the first meta-analysis of genome-wide single nucleotide polymorphism (SNP) data across studies of bipolar disorder. We implicated several genomic regions, including a role for calcium ion channel genes in this disease. [commentary]
A later combined analysis of over 15,000 individuals, performed within the context of the PGC, provided further support for calcium channel and other genes.
A relatively old publication, included here to indicate some of our earlier work in behavioral genetics and twin studies. This manuscript provided a comprehensive methodological treatment for modeling how measured environmental variables can modify the relative impact of genetic influences for quantitative traits.
A small application note that describes a simple but widely used web tool for power calculation in the context of genetic association and linkage studies.