User profiles for Alicia R. Martin

Alicia Martin

Assistant Professor, MGH & Broad Institute
Verified email at broadinstitute.org
Cited by 35821

[HTML][HTML] Genome-wide association studies

…, J De Vries, Y Okada, AR Martin, HC Martin… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease. This …

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

…, H Huang, JB Maller, AR Martin, NG Martin… - Nature …, 2019 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …

Identification of common genetic risk variants for autism spectrum disorder

…, CM Hultman, L Klei, J Maller, J Martin, AR Martin… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …

Clinical use of current polygenic risk scores may exacerbate health disparities

AR Martin, M Kanai, Y Kamatani, Y Okada, BM Neale… - Nature …, 2019 - nature.com
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine.
However, the major ethical and scientific challenge surrounding clinical implementation …

[PDF][PDF] Human demographic history impacts genetic risk prediction across diverse populations

AR Martin, CR Gignoux, RK Walters, GL Wojcik… - The American Journal of …, 2017 - cell.com
The vast majority of genome-wide association studies (GWASs) are performed in Europeans,
and their transferability to other populations is dependent on many factors (eg, linkage …

[PDF][PDF] Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

…, KP Lesch, PWL Leung, SK Loo, J Martin, AR Martin… - Cell, 2019 - cell.com
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

A roadmap to increase diversity in genomic studies

…, T Chikowore, A Choudhury, M Ayub, AR Martin… - Nature medicine, 2022 - nature.com
Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and microarray-…

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

…, S Gazal, WJ Peyrot, AV Khera, Y Okada, AR Martin… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population polygenic …

Improving polygenic prediction in ancestrally diverse populations

…, CY Chen, M Lam, Z Guo, L He, A Sawa, AR Martin… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

[PDF][PDF] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

…, RJ Strawbridge, L Brick, CE Carey, AR Martin… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented. …