Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis
Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells
(HSCs), leading to clonal haematopoiesis. These lesions are precursors for blood cancers …
(HSCs), leading to clonal haematopoiesis. These lesions are precursors for blood cancers …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …
variant (RV) associations with complex human diseases and traits. Variant-set analysis is a …
Scalable approaches for functional analyses of whole-genome sequencing non-coding variants
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …
role in genetic and epigenetic regulation. It has become increasingly important to …
Rare variant association testing in the non-coding genome
The development of next-generation sequencing technologies has opened-up some new
possibilities to explore the contribution of genetic variants to human diseases and in …
possibilities to explore the contribution of genetic variants to human diseases and in …
Whole genome sequence analysis of blood lipid levels in> 66,000 individuals
Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery …
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height
The role of rare non-coding variation in complex human phenotypes is still largely unknown.
To elucidate the impact of rare variants in regulatory elements, we performed a whole …
To elucidate the impact of rare variants in regulatory elements, we performed a whole …
Detecting local genetic correlations with scan statistics
Genetic correlation analysis has quickly gained popularity in the past few years and
provided insights into the genetic etiology of numerous complex diseases. However, existing …
provided insights into the genetic etiology of numerous complex diseases. However, existing …
Enhancing prediction accuracy of coronary artery disease through machine learning-driven genomic variant selection
Abstract Machine learning (ML) methods are increasingly becoming crucial in genome-wide
association studies for identifying key genetic variants or SNPs that statistical methods might …
association studies for identifying key genetic variants or SNPs that statistical methods might …