User profiles for Mark J. Daly
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad … Verified email at atgu.mgh.harvard.edu Cited by 463178 |
High-resolution haplotype structure in the human genome
Linkage disequilibrium (LD) analysis is traditionally based on individual genetic markers
and often yields an erratic, non-monotonic picture, because the power to detect allelic …
and often yields an erratic, non-monotonic picture, because the power to detect allelic …
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 . …
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
Drug-induced liver injury (DILI) is an important cause of serious liver disease. The antimicrobial
agent flucloxacillin is a common cause of DILI, but the genetic basis for susceptibility …
agent flucloxacillin is a common cause of DILI, but the genetic basis for susceptibility …
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 …
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 …
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
Crohn’s disease and ulcerative colitis, the two common forms of inflammatory bowel disease
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …
(IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other …
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 …
The international HapMap project
The goal of the International HapMap Project is to determine the common patterns of DNA
sequence variation in the human genome and to make this information freely available in the …
sequence variation in the human genome and to make this information freely available in the …
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
Several risk factors for Crohn's disease have been identified in recent genome-wide association
studies. To advance gene discovery further, we combined data from three studies on …
studies. To advance gene discovery further, we combined data from three studies on …