Dissecting the genetic architecture of complex traits is an ongoing challenge for geneticists.
Two complementary approaches for genetic map**, linkage map** and association …

With the availability of DNA-based molecular markers during early 1980s and that of
sophisticated statistical tools in late 1980s and later, it became possible to identify genomic …

Common genetic variants confer substantial risk for chronic lung diseases, including
pulmonary fibrosis. Defining the genetic control of gene expression in a cell-type-specific …

Scanpy is a scalable toolkit for analyzing single-cell gene expression data. It includes
methods for preprocessing, visualization, clustering, pseudotime and trajectory inference …

Our comprehensive analysis of alternative splicing across 32 The Cancer Genome Atlas
cancer types from 8,705 patients detects alternative splicing events and tumor variants by …

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …

Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

Characterizing the multifaceted contribution of genetic and epigenetic factors to disease
phenotypes is a major challenge in human genetics and medicine. We carried out high …

Studying the function of common genetic variants in primary human tissues and during
development is challenging. To address this, we use an efficient multiplexing strategy to …