The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

Methodological breakthroughs over the past four decades have repeatedly revolutionized
transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to …

The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …

The major cell classes of the brain differ in their developmental processes, metabolism,
signaling, and function. To better understand the functions and interactions of the cell types …

Background Clinical and epidemiologic studies have shown that obesity is associated with
asthma and that these associations differ by asthma subtype. Little is known about the …

We present primary results from the Sequencing Quality Control (SEQC) project,
coordinated by the US Food and Drug Administration. Examining Illumina HiSeq, Life …

Methylation of the N 6 position of adenosine (m 6 A) is a posttranscriptional modification of
RNA with poorly understood prevalence and physiological relevance. The recent discovery …

More than 80% of patients with the refractory anemia with ring sideroblasts subtype of
myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1) …

The GENCODE Consortium aims to identify all gene features in the human genome using a
combination of computational analysis, manual annotation, and experimental validation …

Abstract The Arabidopsis Information Resource (TAIR, http://arabidopsis. org) is a genome
database for Arabidopsis thaliana, an important reference organism for many fundamental …