A5061276722- Genetic Neurodegenerative Diseases
- LGBTQ Health, Identity, and Policy
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Reproductive Health and Technologies
- Health Literacy and Information Accessibility
- African Sexualities and LGBTQ+ Issues
- Diversity and Career in Medicine
- Reproductive Biology and Fertility
- Primary Care and Health Outcomes
- Health and Well-being Studies
- RNA modifications and cancer
- Sperm and Testicular Function
- Molecular Biology Techniques and Applications
- Hormonal and reproductive studies
- Mitochondrial Function and Pathology
- Autism Spectrum Disorder Research
- Health Sciences Research and Education
- Medication Adherence and Compliance
- Names, Identity, and Discrimination Research
- Forensic and Genetic Research
- Smoking Behavior and Cessation
- Genetic factors in colorectal cancer
University of Utah
2021-2025
Abstract There are over 1 million transgender people living in the United States, and 33% report negative experiences with a healthcare provider, many of which connected to data representation electronic health records (EHRs). We present recommendations common pitfalls involving sex- gender-related collection EHRs. Our leverage needs patients, medical providers, researchers optimize both individual patient efficacy reproducibility EHR population-based studies. also briefly discuss adequate...
Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting reads are often mapped incorrectly. Detection particularly difficult for "novel" STRs, which include new motifs at known loci or STRs absent from the reference genome. We developed STRling to efficiently count k-mers recover informative and call expansions novel STR loci. sensitive disease loci, has a low false discovery rate, resolves...
Abstract Context Guidelines for use of injectable estradiol esters (valerate [EV] and cypionate [EC]) among transgender gender diverse (TGD) individuals designated male at birth vary considerably, with many providers noting supraphysiologic serum concentrations based on current dosing recommendations. Objectives 1. Determine dose (subcutaneous [SC] intramuscular [IM]) needed to reach guideline-recommended TGD adults using EC/EV. 2. Describe relationship between concentration relative...
Abstract Approximately 8% of the human genome consists repetitive elements called tandem repeats (TRs): short (STRs) 1–6 bp motifs and variable number (VNTRs) 7 + motifs. TR variants contribute to several dozen monogenic diseases but remain understudied enigmatic. It remains comparatively challenging interpret clinical significance variants, particularly relative single nucleotide variants. We present STRchive ( http://strchive.org/ ), a dynamic resource consolidating information on disease...
Abstract Approximately 3% of the human genome consists repetitive elements called tandem repeats (TRs), which include short (STRs) 1–6bp motifs and variable number (VNTRs) 7+bp motifs. TR variants contribute to several dozen mono- polygenic diseases but remain understudied “enigmatic,” particularly relative single nucleotide variants. It remains comparatively challenging interpret clinical significance Although existing resources provide portions necessary data for interpretation at...
Abstract Male infertility is associated with elevated rates of aneuploidy and DNA breaks in spermatozoa germline precursors. This common condition not well understood poor individual familial somatic health relative to fertile men. To further understand the extent source genome instability, we used error-corrected duplex sequencing test whether impaired spermatogenesis relatively poorer oligozoospermic men are linked single nucleotide de novo mutation frequencies their sperm blood,...
Abstract Tandem repeat (TR) catalogs are important components of genotyping studies as they define the genomic coordinates and expected motifs all TR loci being analyzed. In recent years, genome-wide have used ranging in size from fewer than 200,000 to over 7 million loci. Where these overlapped, often disagreed on locus boundaries, hindering comparison reuse results across studies. Now, with multiple groups developing public databases variation large population cohorts, there is a risk...
There are over one million transgender people living in the United States and 33% report negative experiences with a healthcare provider, many of which connected to data representation electronic health records (EHRs). We present recommendations common pitfalls involving sex- gender-related collection EHRs. Our leverage needs patients, medical providers, researchers optimize both individual patient efficacy reproducibility EHR population-based studies. also briefly discuss adequate additions...
Transgender and gender-diverse (TGD) people, individuals whose gender identity differs from their sex assigned at birth, face unique challenges in accessing gender-affirming care often experience disparities a variety of health outcomes. Clinical research on TGD is limited by lack standardization how to best identify these individuals. The objective this retrospective cohort analysis was accurately describe adults use 2003-2023 healthcare system Utah, United States. International...
This essay explores the experiences of a neurodivergent academic navigating challenges masking autism and ADHD (AuDHD) traits in higher education setting. The subject, who is also transgender assigned female at birth, was late diagnosed used compensatory strategy excellence to mitigate social exclusion. A pivotal mentorship with Dr. Harriet Dashnow, postdoctoral researcher same identity, highlights significance representation authentic support. Dashnow's mentorship, characterized by both...
Trans people are at significantly elevated risk of suicide death, attempts, and suicidal ideation than their cisgender peers. Suicide prevention efforts needed that address the most important issues to trans community. In this qualitative study conducted in United States 2021, we aimed broadly explore community member perspectives on suicidality needs. We four virtual focus groups-including one exclusively for color. also solicited additional online responses same group questions. A total 56...
Abstract Expansions of short tandem repeats (STRs) cause dozens rare Mendelian diseases. However, STR expansions, especially those arising from not present in the reference genome, are challenging to detect short-read sequencing data. Such “novel” STRs include new repeat units occurring at known loci, or entirely loci where sequence is absent genome. A primary difficulty detecting expansions that reads frequently mismapped unmapped. To address this challenge, we have developed STRling, a...