FlyBase (flybase. org) is a knowledge base that supports the community of researchers that
use the fruit fly, Drosophila melanogaster, as a model organism. The FlyBase team curates …

Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Abstract The Illuminating the Druggable Genome (IDG) project aims to improve our
understanding of understudied proteins and our ability to study them in the context of …

In most eukaryotic cells, fatty acid synthesis (FAS) occurs in the cytoplasm and in
mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular …

Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly
involve the use of next-generation sequencing and comparative genomic hybridization …

Abstract Xenbase (https://www. xenbase. org/), the Xenopus model organism
knowledgebase, is a web-accessible resource that integrates the diverse genomic and …

Decreased sequencing costs have led to an explosion of genetic and genomic data. These
data have revealed thousands of candidate human disease variants. Establishing which …

In numerous applications, from working with animal models to mapping the genetic basis of
human disease susceptibility, knowing whether a single disrupting mutation in a gene is …

Gene set enrichment analysis (GSEA) plays an important role in large-scale data analysis,
helping scientists discover the underlying biological patterns over-represented in a gene list …

Although gene discovery in neuropsychiatric disorders, including autism spectrum disorder,
intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated …