User profiles for Alicia R. Martin
Alicia MartinAssistant Professor, MGH & Broad Institute Verified email at broadinstitute.org Cited by 35821 |
[HTML][HTML] Genome-wide association studies
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 …
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
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 …
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants …
Clinical use of current polygenic risk scores may exacerbate health disparities
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine.
However, the major ethical and scientific challenge surrounding clinical implementation …
However, the major ethical and scientific challenge surrounding clinical implementation …
[PDF][PDF] Human demographic history impacts genetic risk prediction across diverse populations
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 …
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
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …
A roadmap to increase diversity in genomic studies
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-…
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
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population polygenic …
health disparities. We propose PolyPred, a method that improves cross-population polygenic …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
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
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented. …
European descent, but it is essential that diverse populations become better represented. …