User profiles for M. J. Daly

Mark Daly

Director, 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 …

Clinical use of current polygenic risk scores may exacerbate health disparities

…, M Kanai, Y Kamatani, Y Okada, BM Neale, MJ Daly - 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 …

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 …

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

…, DM Ruderfer, AN Kirby, MAR Ferreira, MJ Daly… - Nature, 2009 - nature.com
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 . …

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 …

Haploview: analysis and visualization of LD and haplotype maps

JC Barrett, B Fry, J Maller, MJ Daly - Bioinformatics, 2005 - academic.oup.com
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 …

A framework for variation discovery and genotyping using next-generation DNA sequencing data

…, K Cibulskis, SB Gabriel, D Altshuler, MJ Daly - Nature …, 2011 - nature.com
Recent advances in sequencing technology make it possible to comprehensively catalog
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

…, J Maller, P Sklar, PIW De Bakker, MJ Daly… - The American journal of …, 2007 - cell.com
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 …

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, MT Tsuang, HC Watkins, JG Wilson, MJ Daly… - Nature, 2016 - nature.com
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 …

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 …