Neale’s research focuses heavily on statistical methodology. He has analyzed genetic data from large-scale studies of patients with ADHD, autism, age-related macular degeneration, type 2 diabetes, and metabolic disorders. Neale also analyzed data from the first ADHD genome-wide association study (GWAS) meta-analysis, which combined the results of four studies to boost statistical power. Neale contributed to the development of software tools such as PLINK, one of the most frequently used packages for GWAS analysis. In addition to his roles at both the Broad Institute and MGH, Neale is the head of the ADHD psychiatric genetics GWAS analysis committee and an active member of the broader Psychiatric GWAS Consortium analysis committee, which is charged with analyzing all psychiatric data from these large-scale genome-wide association studies. Neale also led the design of the exome chip, a genotyping array that captures rare coding variation in a cost-effective manner. To date, over 1.5 million exome chips have been sold.