User profiles for M. J. Daly
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad … Verified email at atgu.mgh.harvard.edu Cited by 429013 |
Genome-wide association studies for common diseases and complex traits
JN Hirschhorn, MJ Daly - Nature reviews genetics, 2005 - nature.com
… Altshuler and MJ Daly, personal communication), a few hundred thousand well-chosen
SNPs should be adequate to provide information about most of the common variation in the …
SNPs should be adequate to provide information about most of the common variation in the …
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 …
Genetic mapping in human disease
D Altshuler, MJ Daly, ES Lander - science, 2008 - science.org
Genetic mapping provides a powerful approach to identify genes and biological processes
underlying any trait influenced by inheritance, including human diseases. We discuss the …
underlying any trait influenced by inheritance, including human diseases. We discuss the …
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …
Biological insights from 108 schizophrenia-associated genetic loci
…, DR Weinberger, JR Wendland, T Werge, MJ Daly… - Nature, 2014 - nature.com
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …
alleles, including common alleles of small effect that might be detected by genome-wide …
Haploview: analysis and visualization of LD and haplotype maps
Research over the last few years has revealed significant haplotype structure in the human
genome. The characterization of these patterns, particularly in the context of medical genetic …
genome. The characterization of these patterns, particularly in the context of medical genetic …
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …
genetic variation in population samples, creating a foundation for understanding human …
[PDF][PDF] PLINK: a tool set for whole-genome association and population-based linkage analyses
Whole-genome association studies (WGAS) bring new computational, as well as analytic,
challenges to researchers. Many existing genetic-analysis tools are not designed to handle …
challenges to researchers. Many existing genetic-analysis tools are not designed to handle …
[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
functional interpretation of DNA sequence changes. Here we describe the aggregation and …
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
…, M Ridderstråle, E Laurila, N Houstis, MJ Daly… - Nature …, 2003 - nature.com
DNA microarrays can be used to identify gene expression changes characteristic of human
disease. This is challenging, however, when relevant differences are subtle at the level of …
disease. This is challenging, however, when relevant differences are subtle at the level of …