A5087469756- Forensic and Genetic Research
- Chromosomal and Genetic Variations
- Genetic diversity and population structure
- Genomics and Phylogenetic Studies
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Race, Genetics, and Society
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Evolution and Genetic Dynamics
- RNA Research and Splicing
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Rare Diseases
- Molecular Biology Techniques and Applications
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Developmental Biology and Gene Regulation
- Atrial Fibrillation Management and Outcomes
- Genomics and Chromatin Dynamics
- Neurofibromatosis and Schwannoma Cases
- Forensic Anthropology and Bioarchaeology Studies
- Genetic and phenotypic traits in livestock
- Genetic Neurodegenerative Diseases
- Preterm Birth and Chorioamnionitis
- Neonatal Respiratory Health Research
University of Utah
2015-2024
South Texas Veterans Health Care System
2002
University of New Mexico
2002
The University of Texas Health Science Center at San Antonio
2002
University of Health Sciences
2001
University of Arizona
2001
Louisiana State University Health Sciences Center New Orleans
2001
Andhra University
2001
Anthropological Survey of India
2001
Newcastle University
2001
Duplications and deletions in the human genome can lead to variation copy number for genes genomic loci among humans. Such variants reveal evolutionary patterns have implications health. Sudmant et al. examined copy-number across 236 individual genomes from 125 populations. Deletions were under more selection, whereas duplications showed population-specific structure. Interestingly, Oceanic populations retain large postulated originated an ancient Denisovan lineage. Science , this issue...
The ETS gene family is frequently involved in chromosome translocations that cause human cancer, including prostate leukemia, and sarcoma. However, the mechanisms by which oncogenic proteins, are DNA-binding transcription factors, target genes necessary for tumorigenesis not well understood. Ewing's sarcoma serves as a paradigm entire class of ETS-associated tumors because nearly all cases harbor recurrent chromosomal involving genes. most common translocation encodes EWS/FLI factor. We used...
We have examined differences in diversity at 60 microsatellite loci among human population samples from three major continental groups to evaluate the hypothesis of greater African this rapidly evolving class loci. Application a statistical test that assumes equal mutation rates all fails demonstrate diversity, while randomization does not make assumption finds Africans significantly ( P < 10 −8 ) than do Asians and Europeans. Greater is most apparent with smaller overall variance allele...
Abstract The proportion of human genetic variation due to differences between populations is modest, and individuals from different can be genetically more similar than the same population. Yet sufficient data permit accurate classification into populations. Both findings obtained set, using number polymorphic loci. This article explains why. Our analysis focuses on frequency, ω, with which a pair random two randomly selected any single We compare ω error rates several methods, sets that...
Abstract To examine the signature of population expansion on genetic variability at microsatellite loci, we consider a that evolves according to time-continuous Moran model, with growing size and mutations follow general asymmetric stepwise mutation model. We present calculations expected allele-size variance homozygosity locus in such model for several variants growth, including stepwise, exponential, logistic growth. These particular prove bottleneck followed by growth causes an imbalance...
CCR5 encodes a cell surface chemokine receptor molecule that serves as the principal coreceptor, with CD4, for HIV-type 1 (HIV-1). Varied HIV-1 susceptibility and time to progression AIDS have been associated polymorphisms in . Many of these are located 5′ cis -regulatory region , suggesting it may target natural selection. We characterized sequence variation this 400 chromosomes from worldwide populations compared genome-wide analysis 100 Alu typed same populations. Variation was...
To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and tetranucleotide short tandem repeat (STR) in 243 Africans, Asians, Europeans. An evolutionary tree based on displays deep African branches, indicating greater genetic diversity for populations. This finding, which is consistent with previous analyses, has been interpreted as evidence an humans. Both sets polymorphisms, well a third set trinucleotide are...
We examine the distribution and structure of human genetic diversity for 710 individuals representing 31 populations from Africa, East Asia, Europe, India using 100 Alu insertion polymorphisms all 22 autosomes. is highest in Africans (0.349) lowest Europeans (0.297). frequency (0.463) higher Indians (0.544), E. Asians (0.557), (0.559). Large distances are observed among African between non-African populations. The root a neighbor-joining network located closest to These findings consistent...
Accurate estimation of recent shared ancestry is important for genetics, evolution, medicine, conservation biology, and forensics. Established methods estimate kinship accurately first-degree through third-degree relatives. We demonstrate that chromosomal segments by two individuals due to identity descent (IBD) provide much additional information about ancestry. developed a maximum-likelihood method the (ERSA) from number lengths IBD derived high-density SNP or whole-genome sequence data....
Germline mutation rates in humans have been estimated for a variety of types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate three active retrotransposon elements: L1, Alu , SVA. We used tools calling mobile element insertions (MEIs) (MELT, RUFUS, TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. identified 26 de novo MEIs 437 births....
ABSTRACT Using five complementary short- and long-read sequencing technologies, we phased assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess de novo mutations (DNMs) recombination. From this family, estimate an average 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.4 non-tandem repeat indels, 79.6 indels or structural (SVs) originating from tandem repeats, 7.7 centromeric SVs...
Mismatch distributions are histograms showing the pattern of nucleotide (or restriction) site differences between pairs individuals in a sample. They can be used to test hypotheses about history population size and subdivision (if selective neutrality is assumed) or selection constant assumed). Previous work has assumed that mutations never strike same twice, an assumption called model infinite sites. Fortunately, results surprisingly robust even when this violated. We show here (1)...
Understanding the distribution of human genetic variation is an important foundation for research into genetics common diseases. Some alleles that modify disease risk are themselves likely to be and, thus, amenable identification using gene-association methods. A problem with this approach large sample sizes required sufficient statistical power detect moderate effect make studies susceptible false-positive findings as result population stratification [1, 2]. Such type I errors can...