Comprehensive dissection of cis-regulatory elements in a 2.8 Mb topologically associated domain in six human cancers - Nature Communications

The oncogene MYC plays a key role in cancer initiation and progression. Using thousands of CRISPR perturbations, the authors investigate regulators of MYC in six different cancers. These tumor-specifi...

nature.com

Contribution of autosomal rare and de novo variants to sex differences in autism

Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosom…

sciencedirect.com

Joint single-cell profiling of CRISPR-Cas9 edits and transcriptomes reveals widespread off-target events and their effects on gene expression

A longstanding barrier in genome engineering with CRISPR-Cas9 has been the inability to measure Cas9 edit outcomes and their functional effects at single-cell resolution. Here we present Superb-seq , ...

biorxiv.org

The distribution of highly deleterious variants across human ancestry groups

A major focus of human genetics is to map severe disease mutations. Increasingly that goal is understood as requiring huge numbers of people to be sequenced from every broadly-defined genetic ancestry...

biorxiv.org

Efficient count-based models improve power and robustness for large-scale single-cell eQTL mapping

Population-scale single-cell transcriptomic technologies (scRNA-seq) enable characterizing variant effects on gene regulation at the cellular level (e.g., single-cell eQTLs; sc-eQTLs). However, existi...

medrxiv.org

Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere

The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution of rare variants (RVs), both coding and non-coding, to complex disease. Multiple RV association tes...

medrxiv.org