User profiles for Kathryn S. Burch
Kathryn S. BurchRegeneron Genetics Center Verified email at ucla.edu Cited by 1326 |
Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification
Although the cohort-level accuracy of polygenic risk scores (PRSs)—estimates of genetic
value at the individual level—has been widely assessed, uncertainty in PRSs remains …
value at the individual level—has been widely assessed, uncertainty in PRSs remains …
Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture
SNP-heritability is a fundamental quantity in the study of complex traits. Recent studies have
shown that existing methods to estimate genome-wide SNP-heritability can yield biases …
shown that existing methods to estimate genome-wide SNP-heritability can yield biases …
[PDF][PDF] Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits
Although recent studies provide evidence for a common genetic basis between complex
traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-…
traits and Mendelian disorders, a thorough quantification of their overlap in a phenotype-…
[PDF][PDF] Localizing components of shared transethnic genetic architecture of complex traits from GWAS summary data
Despite strong transethnic genetic correlations reported in the literature for many complex
traits, the non-transferability of polygenic risk scores across populations suggests the …
traits, the non-transferability of polygenic risk scores across populations suggests the …
[HTML][HTML] Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative
Background Large medical centers in urban areas, like Los Angeles, care for a diverse
patient population and offer the potential to study the interplay between genetic ancestry and …
patient population and offer the potential to study the interplay between genetic ancestry and …
[PDF][PDF] Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data
The proportion of variation in complex traits that can be attributed to non-additive genetic
effects has been a topic of intense debate. The availability of biobank-scale datasets of …
effects has been a topic of intense debate. The availability of biobank-scale datasets of …
[HTML][HTML] Efficient variance components analysis across millions of genomes
While variance components analysis has emerged as a powerful tool in complex trait genetics,
existing methods for fitting variance components do not scale well to large-scale datasets …
existing methods for fitting variance components do not scale well to large-scale datasets …
On powerful GWAS in admixed populations
MATTERS ARISING NATURE GENETICS other effect sizes or when the causal variant was
untyped and missing from the data, thus confirming that GWAS in admixed populations …
untyped and missing from the data, thus confirming that GWAS in admixed populations …
[HTML][HTML] Estimation of regional polygenicity from GWAS provides insights into the genetic architecture of complex traits
The number of variants that have a non-zero effect on a trait (ie. polygenicity) is a fundamental
parameter in the study of the genetic architecture of a complex trait. Although many …
parameter in the study of the genetic architecture of a complex trait. Although many …
Leveraging genomic diversity for discovery in an EHR-linked biobank: the UCLA ATLAS Community Health Initiative
Large medical centers located in urban areas such as Los Angeles care for a diverse patient
population and offer the potential to study the interplay between genomic ancestry and …
population and offer the potential to study the interplay between genomic ancestry and …