Publications by authors named "Jennifer Rico-Varela"

Article Synopsis
  • Researchers analyzed genetic data from nearly 1 million individuals to create a comprehensive catalogue of human protein-coding variations, shedding light on gene function and the frequency of rare coding variants.
  • The study identified over 10 million missense and 1.1 million loss-of-function variants, discovering 1,751 novel genes with rare biallelic loss-of-function variants and 3,988 genes intolerant to these variants.
  • They estimate that 3% of people carry a clinically significant genetic variant and provide public access to their data to enhance genetic interpretation and support precision medicine.
View Article and Find Full Text PDF

Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry to serve as a rich resource for studying rare coding variants.

View Article and Find Full Text PDF

Embryogenesis is a highly regulated developmental process requiring complex mechanical and biochemical microenvironments to give rise to a fully developed and functional embryo. Significant efforts have been taken to recapitulate specific features of embryogenesis by presenting the cells with developmentally relevant signals. The outcomes, however, are limited partly due to the complexity of this biological process.

View Article and Find Full Text PDF

Birth defects are a common occurrence in the United States and worldwide. Currently, evaluation of potential developmental toxicants (i.e.

View Article and Find Full Text PDF

Medulloblastoma (MB) is a malignant pediatric brain tumor known for its aggressive metastatic potential. Despite the well-documented migration of MB cells to other parts of the brain and spinal column, MB chemotaxis is poorly understood. Herein, we examined the migratory and cellular responses of MB-derived cells to external signaling of Epidermal Growth Factor (EGF), hepatocyte growth factor (HGF), platelet-derived growth factor (PDGF-BB), and the stromal cell-derived factors 1-alpha (SDF-1).

View Article and Find Full Text PDF