Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Embryonic stem (ES) cells can undergo many aspects of mammalian embryogenesis in vitro
1 , 2 , 3 , 4 – 5 , but their developmental potential is substantially extended by interactions …

The HeLa cell line was established in 1951 from cervical cancer cells taken from a patient,
Henrietta Lacks. This was the first successful attempt to immortalize human-derived cells in …

Mammalian embryogenesis is characterized by rapid cellular proliferation and diversification.
Within a few weeks, a single-cell zygote gives rise to millions of cells expressing a panoply …

Single-cell combinatorial indexing RNA sequencing (sci-RNA-seq) is a powerful method for
recovering gene expression data from an exponentially scalable number of individual cells …

Molecular inversion probes (MIPs) enable cost-effective multiplex targeted gene resequencing
in large cohorts. However, the design of individual MIPs is a critical parameter governing …

Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a
collaborative project established to genotype and study hemophilia. Patients were enrolled at …

We set out to exhaustively characterize the impact of the cis-chromatin environment on prime
editing, a precise genome engineering tool. Using a highly sensitive method for mapping …

The human genome contains millions of candidate cis-regulatory elements (CREs) with cell-type-specific
activities that shape both health and myriad disease states. However, we lack a …

The house mouse, Mus musculus, is an exceptional model system, combining genetic
tractability with close homology to human biology. Gestation in mouse development lasts just …