Publications by authors named "Rebecca Biswell"
Purpose: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials.
Methods: Analysis consisted of review of insurance denials in 801 patients enrolled in a pediatric genomic research repository with either no previous genetic testing or previous negative genetic testing result identified through cross-referencing with insurance prior-authorizations in patient medical records. Patients and denials were also categorized by type of insurance coverage.
Article Synopsis
- The study focused on improving diagnosis and understanding of genetic disorders in children through the Genomic Answers for Kids program by analyzing genetic information from 960 families.
- Researchers utilized various sequencing methods, including short-read and long-read genome sequencing, alongside machine learning to prioritize genetic variants and stored the data in a structured database for future access.
- The results showed varying diagnostic success rates, with new diagnostic information gained from structural variants and long-read sequencing, highlighting ongoing challenges in identifying variants of unknown significance in nondiagnostic cases.
Invasive trophoblast cells are critical to spiral artery remodeling in hemochorial placentation. Insufficient trophoblast cell invasion and vascular remodeling can lead to pregnancy disorders including preeclampsia, preterm birth, and intrauterine growth restriction. Previous studies in mice identified achaete-scute homolog 2 (ASCL2) as essential to extraembryonic development.
View Article and Find Full Text PDFThe complex relationship between metabolic disease risk and body fat distribution in humans involves cellular characteristics which are specific to body fat compartments. Here we show depot-specific differences in the stromal vascual fraction of visceral and subcutaneous adipose tissue by performing single-cell RNA sequencing of tissue specimen from obese individuals. We characterize multiple immune cells, endothelial cells, fibroblasts, adipose and hematopoietic stem cell progenitors.
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