A5010686081- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
- Environmental DNA in Biodiversity Studies
- Identification and Quantification in Food
- Genetic Associations and Epidemiology
- Genetic diversity and population structure
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Retinal Development and Disorders
- Race, Genetics, and Society
- Gene expression and cancer classification
- RNA modifications and cancer
- Advanced biosensing and bioanalysis techniques
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- interferon and immune responses
- Balance, Gait, and Falls Prevention
- User Authentication and Security Systems
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ethics in Clinical Research
- Wildlife Ecology and Conservation
- Spinal Cord Injury Research
- Retirement, Disability, and Employment
- Single-cell and spatial transcriptomics
University of North Texas
2015-2024
University of North Texas Health Science Center
2015-2024
Vanderbilt University Medical Center
2022
Pediatrics and Genetics
2020
UC Irvine Health
2019
Bipar
2016
King Abdulaziz University
2016
The University of Texas Health Science Center at Houston
2012-2014
The University of Texas MD Anderson Cancer Center
2010
We determined the fraction of families in a well-characterized cohort with provisional diagnosis autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations X-linked GTPase regulator (RPGR) gene or 2 (RP2) gene.Families clinical adRP, and pedigree consistent adRP but no male-to-male transmission were selected from 258 families, tested for RPGR RP2 genes di-deoxy sequencing. To facilitate testing "adRP" had male members available testing, repetitive purine-rich ORF15...
Abstract Background Although the primary objective of forensic DNA analyses unidentified human remains is positive identification, cases involving historical or archaeological skeletal often lack reference samples for comparison. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these valuable on feasibility applying MPS characterization modern casework samples. In this study, was used characterize 140-year-old discovered at a site...
The transcription factor TCF21 is involved in mesenchymal-to-epithelial differentiation and was shown to be aberrantly hypermethylated lung head neck cancers. Because of its reported high frequency hypermethylation cancer, further characterization the stages types nonsmall cell cancer (NSCLC) that are associated "second hits" were assessed.TCF21 promoter 105 NSCLC including various histologies smokers nonsmokers determined. In addition, loss heterozygosity mutational status examined....
To perform a blind study to assess the capability of Ion Personal Genome Machine® (PGM™) system sequence forensically relevant genetic marker panels and characterize unknown individuals for ancestry possible relatedness.Twelve genomic samples were provided by third party blinded analysis. For these 12 samples, mitochondrial genome three PGM™ containing human identity single nucleotide polymorphisms (SNPs), informative SNPs, short tandem repeats (STRs) sequenced on analyzed.All four systems...
For the adoption of massively parallel sequencing (MPS) systems by forensic laboratories, validation studies on specific workflows are needed to support feasibility implementation and reliability data they produce. As such, whole mitochondrial genome methodology—Precision ID mtDNA Whole Genome Panel, Ion Chef, S5, Converge—has been subjected a variety developmental studies. These were completed in accordance with Scientific Working Group DNA Analysis Methods (SWGDAM) guidelines assessed...
Abstract Massively parallel sequencing (MPS) technology is capable of determining the sizes short tandem repeat (STR) alleles as well their individual nucleotide sequences. Thus, single polymorphisms (SNPs) within regions STRs and variations in pattern units a given motif can be used to differentiate same length. In this study, MPS was sequence 28 forensically-relevant Y-chromosome set 41 DNA samples from 3 major U.S. population groups (African Americans, Caucasians, Hispanics). The...
Assays in mitochondrial genomics rely on accurate read mapping and variant calling. However, there are known unknown nuclear paralogs that have fundamentally different genetic properties than of the genome. Such complicate interpretation genome data confound calling.Remove Numts! (RtN!) was developed to categorize reads from massively parallel sequencing not based expected sequence identities paralogous encoded sequences, but instead using similarity a large database publicly available...
Abstract Although short tandem repeats (STRs) are traditionally the marker of choice for traditional forensic DNA typing applications, single‐nucleotide polymorphisms (SNPs; pronounced “snips”) and microhaplotypes (MHs) additional genetic classes than can be utilized generating profile information that may result in new investigative leads human identity determination(s). For example, when working with samples poor quality and/or low quantity, a SNP‐based approach could invaluable providing...
Short tandem repeats and single nucleotide polymorphisms (SNPs) are used to individualize biological evidence samples. repeat alleles characterized by size separation during capillary electrophoresis (CE). Massively parallel sequencing (MPS) offers an alternative that can overcome limitations of the CE. With MPS, libraries prepared for each sample, entailing target enrichment bar coding, purification, normalization. The HaloPlex Target Enrichment System (Agilent Technologies) uses a...
Despite the benefits of quantitative data generated by massively parallel sequencing, resolving mitotypes from mixtures occurring in certain ratios remains challenging. In this study, a bioinformatic mixture deconvolution method centered on population-based phasing was developed and validated. The first tested 270 silico two-person varying proportions. An assortment external reference panels containing information haplotypic variation (from similar different haplogroups) leveraged to assess...