User profiles for Sara Pulit
Sara L PulitVertex Pharmaceuticals Verified email at vrtx.com Cited by 14428 |
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
The interpretation of genome-wide association results is confounded by linkage disequilibrium
between nearby alleles. We have developed a flexible bioinformatics query tool for single-…
between nearby alleles. We have developed a flexible bioinformatics query tool for single-…
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
More than one in three adults worldwide is either overweight or obese. Epidemiological studies
indicate that the location and distribution of excess fat, rather than general adiposity, are …
indicate that the location and distribution of excess fat, rather than general adiposity, are …
Multi-ethnic genome-wide association study for atrial fibrillation
Atrial fibrillation (AF) affects more than 33 million individuals worldwide 1 and has a complex
heritability 2 . We conducted the largest meta-analysis of genome-wide association studies (…
heritability 2 . We conducted the largest meta-analysis of genome-wide association studies (…
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
…, AM Dekker, RL McLaughlin, FP Diekstra, SL Pulit… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
[HTML][HTML] HLA-B*13:01 and the Dapsone Hypersensitivity Syndrome
…, XC Chen, ZX Zhang, YX Liu, SL Pulit… - … England Journal of …, 2013 - Mass Medical Soc
Background Dapsone is used in the treatment of infections and inflammatory diseases. The
dapsone hypersensitivity syndrome, which is associated with a reported mortality of 9.9%, …
dapsone hypersensitivity syndrome, which is associated with a reported mortality of 9.9%, …
[HTML][HTML] The Genome of the Netherlands: design, and project goals
…, S Cao, J Van Setten, A Menelaou, SL Pulit… - European journal of …, 2014 - nature.com
Within the Netherlands a national network of biobanks has been established (Biobanking and
Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the …
Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the …
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a
heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac …
heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac …
[HTML][HTML] GWAS identifies 14 loci for device-measured physical activity and sleep duration
Physical activity and sleep duration are established risk factors for many diseases, but their
aetiology is poorly understood, partly due to relying on self-reported evidence. Here we …
aetiology is poorly understood, partly due to relying on self-reported evidence. Here we …
[HTML][HTML] Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
Ankylosing spondylitis (AS) is a common, highly heritable, inflammatory arthritis for which
HLA-B*27 is the major genetic risk factor, although its role in the aetiology of AS remains …
HLA-B*27 is the major genetic risk factor, although its role in the aetiology of AS remains …