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New Method to Distinguish Causal, Tagging Tissues

In Nature Genetics, investigators from Harvard T.H. Chan School of Public Health describe a tissue co-regulation score regression (TCSC) they developed that disentangles causal tissues from tagging tissues when analyzing genome-wide association studies and gene expression data. TCSC differs from previous methods as it jointly models contributions of heritability from each tissue to disentangle causal tissues from tagging tissues. They applied TCSC to 78 diseases or traits and gene expression prediction models for 48 Genotype-Tissue Expression project tissues and identified 21 causal tissue-trait pairs. Some findings included biologically plausible new tissue-trait pairs, including associations between the aortic artery and glaucoma, the left ventricle of the heart with platelet count, and the brain hippocampus with ADHD. Meanwhile, they also identified biologically plausible, new tissue-trait covariance pairs, including a positive contribution of the brain substantia nigra and a negative contribution of the pancreas to the covariance of BMI and RBC count, respectively.  

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.