Broad Center

Accurately modeling RNase H-mediated antisense oligonucleotide efficacy.

, achieving a 5.72-fold reduction in screening effort compared to random selection. ASO Atlas provides the first systematic resource to rigorously evaluate hypotheses regarding key parameters in ASO design, including sequence composition, chemical modifications, and target region...

HMMR+ stromal cells drive human uterine development

Abstract Early uterine development in humans is a critical determinant of reproductive health and disease susceptibility during adolescence. While single-cell analyses have extensively characterized the adult uterus, the developmental origins of this organ remain poorly understoo...

MIR192 upregulates GLP-1 receptor and rescues statin-induced impairment of insulin secretion

Abstract Background Statins are a commonly prescribed cholesterol-lowering drug class that can increase the risk of new-onset diabetes (NOD). The underlying molecular mechanisms have yet to be fully elucidated. We aimed to identify molecular factors associated with differential s...

MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores

Many computational predictors of missense variant pathogenicity are available. To capture information across various predictors, we propose MissenseHMM, which learns states corresponding to combinatorial patterns of variant prioritizations. We applied MissenseHMM to 43 predictors...

Charting Endocrine Progenitors Across Species and Organs

ABSTRACT Hormone‐producing cells in the pancreas and intestine regulate whole‐body metabolism and are dysregulated in obesity and diabetes. A deeper understanding of endocrine lineage formation (endocrinogenesis) in these organs is essential to elucidate the healthy state and dis...

Human iPSC-based skeletal muscle model of LAMA2-related congenital muscular dystrophy

Congenital muscular dystrophies (CMDs) are rare, devastating pediatric conditions with no specific treatment or cure. The most common form, LAMA2-related CMD, or LAMA2-CMD (previously known as merosin-deficiency and MDC type 1 A), is caused by myofiber instability from loss of th...