… d, Percentages of genomic positions tested by the Survey of Regulatory Elements (SuRE)
assay for promoter activity in K562 cells (SuRE-positive, filled bars; SuRE-negative, white bars)…

Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber
protein-coding genes in mammalian genomes, but the functional importance of this …

Progress in sequencing, microfluidics, and analysis strategies has revolutionized the granularity
at which multicellular organisms can be studied. In particular, single-cell transcriptomics …

Context The first 2 independent linkage studies for obsessive-compulsive disorder (OCD)
identified a region on 9p24 with suggestive evidence for linkage. The glutamate transporter …

… (D and E) Examples of genes with tissue-specific (D) or universal (E) differential expression
between sucrose+ conditions (filled violins) or sucroseÀ conditions (open violins). Violin …

To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource …

Abstract Analysis of chromatin accessibility can reveal transcriptional regulatory sequences,
but heterogeneity of primary tissues poses a significant challenge in mapping the precise …

The evolution of body shape is thought to be tightly coupled to changes in regulatory
sequences, but specific molecular events associated with major morphological transitions in …