Publications by authors named "Angela L Miller"
Article Synopsis
- * The 1000 Genomes Project and Oxford Nanopore Technologies are working together to produce LRS data from at least 800 samples to enhance the identification of genetic variations and better understand human genetic diversity.
- * Initial analysis of 100 samples shows high accuracy in detecting genetic variants, including structural variants that disrupt gene function, and provides valuable data for the clinical genetics community to advance research on pathogenic variations.
Article Synopsis
- * The 1000 Genomes Project ONT Sequencing Consortium is working to generate LRS data from at least 800 samples to better understand human genetic variation and improve variant detection.
- * Initial data from the first 100 samples show high accuracy in identifying structural variants and methylation signatures, creating a useful public resource for finding disease-related genetic changes.
Background: Obtaining a precise molecular diagnosis through clinical genetic testing provides information about disease prognosis or progression, allows accurate counseling about recurrence risk, and empowers individuals to benefit from precision therapies or take part in N-of-1 trials. Unfortunately, more than half of individuals with a suspected Mendelian condition remain undiagnosed after a comprehensive clinical evaluation, and the results of any individual clinical genetic test ordered during a typical evaluation may take weeks or months to return. Furthermore, commonly used technologies, such as short-read sequencing, are limited in the types of disease-causing variation they can identify.
View Article and Find Full Text PDFArticle Synopsis
- - The study aimed to identify coping strategies and strengths that affect the well-being of youth facing different levels of adversity using a mixed methods approach with 231 participants aged 8-17.
- - Results indicated that both active and passive coping strategies impacted subjective well-being and depression, with family relationships being the most significant predictor of positive outcomes and lower depressive symptoms.
- - The findings emphasize the importance of recognizing youth's resources and strengths to develop interventions that promote well-being, suggesting a focus on supportive relationships and resilience-building strategies.
Introduction: Many tools to assess coping in youth fail to engage youth meaningfully in the assessment process. This study aimed to evaluate a brief timeline activity as an interactive way to assess appraisal and coping in pediatric research and practice.
Method: We used a mixed method convergent design to collect and analyze survey and interview data from 231 youths aged 8-17 years in a community-based setting.
A century of genetic studies of the meiotic process in females has been greatly augmented by both modern molecular biology and major advances in cytology. These approaches, and the findings they have allowed, are the subject of this review. Specifically, these efforts have revealed that meiotic pairing in females is not an extension of somatic pairing, but rather occurs by a poorly understood process during premeiotic mitoses.
View Article and Find Full Text PDFBalancer chromosomes are multiply inverted and rearranged chromosomes used in for many tasks, such as maintaining mutant alleles in stock and complex stock construction. Balancers were created before molecular characterization of their breakpoints was possible, so the precise locations of many of these breakpoints are unknown. Here, we report or confirm the positions of the 14 euchromatic breakpoints on the chromosome balancers , , , and This total includes three breakpoints involved in a complex rearrangement on that is associated with the duplication of two genomic regions.
View Article and Find Full Text PDF