A5109872049- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- CRISPR and Genetic Engineering
- RNA and protein synthesis mechanisms
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Advanced biosensing and bioanalysis techniques
- Nutrition, Genetics, and Disease
- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- Animal Genetics and Reproduction
- Gender Studies in Language
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Plant Virus Research Studies
- Metabolism and Genetic Disorders
- DNA and Nucleic Acid Chemistry
- DNA Repair Mechanisms
- Folate and B Vitamins Research
- Virus-based gene therapy research
- Sexual Differentiation and Disorders
- Genetic Associations and Epidemiology
Geisinger Health System
2022
Autism & Developmental Medicine Institute
2021
Duke University
2007-2018
Marine Biological Laboratory
2016
University of Chicago
2016
Baylor College of Medicine
2015
Duke Medical Center
2008
Duke University Hospital
2008
Duke Institute for Health Innovation
2007
Case Western Reserve University
1996-2006
The androgen receptor (AR) mediates the actions of male sex steroids. Human AR genomic DNA was cloned from a flow-sorted human X chromosome library by using consensus nucleotide sequence DNA-binding domain family nuclear receptors. gene localized on between centromere and q13. Cloned complementary DNA, selected with an AR-specific oligonucleotide probe, expressed in monkey kidney (COS) cells yielded high-affinity androgen-binding protein steroid-binding specificity corresponding to that...
The definition of centromeres human chromosomes requires a complete genomic understanding these regions. Toward this end, we report integration physical mapping, genetic, and functional approaches, together with sequencing selected regions, to define the centromere X chromosome explore evolution sequences responsible for segregation. transitional region between expressed on short arm chromosome-specific alpha satellite array DXZ1 spans about 450 kilobases is satellite-rich. At junction...
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....
The extent to which variation in chromatin structure and transcription factor binding may influence gene expression, thus underlie or contribute phenotype, is unknown. To address this question, we cataloged both individual-to-individual differences between homologous chromosomes within the same individual (allele-specific variation) lymphoblastoid cells derived from individuals of geographically diverse ancestry. Ten percent active sites were individual-specific; a similar proportion...
The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression many cancers, it plays an important role gametic imprinting. To assess variation inheritance genome-wide patterns DNA simultaneously humans, we applied reduced representation bisulfite sequencing (RRBS) to somatic from six members a three-generation family. We observed that 8.1% heterozygous SNPs are associated with differential cis, which provides robust signature Mendelian...
The human genome sequence remains incomplete, with multimegabase-sized gaps representing the endogenous centromeres and other heterochromatic regions. Available sequence-based studies within these sites in have demonstrated a role centromere function chromosome pairing, necessary to ensure proper segregation during cell division. A common genomic feature of regions is enrichment long arrays near-identical tandem repeats, known as satellite DNAs, which offer limited number variant...
Background: Variable health literacy and genetic knowledge may pose significant challenges to engaging the general public in personal genomics, specifically with respect promoting risk comprehension healthy behaviors. Methods: We are conducting a multistage study of individual responses genomic information for Type 2 diabetes mellitus. A total 300 individuals were recruited from Durham, North Carolina: 60% self-identified as White; 70% female; 65% have college degree. As part baseline...
Repeat regions in the human Y chromosome centromere are assembled using long-read nanopore sequencing. The genome reference sequence remains incomplete owing to challenge of assembling long tracts near-identical tandem repeats centromeres. We implemented a sequencing strategy generate high-quality reads that span hundreds kilobases highly repetitive DNA centromere. Combining these data with short-read variant validation, we and characterized centromeric region chromosome.
<h3>Importance</h3> Detection of disease-associated variants in the<i>BRCA1</i>and<i>BRCA2</i>(<i>BRCA1/2</i>) genes allows for cancer prevention and early diagnosis high-risk individuals. <h3>Objectives</h3> To identify pathogenic likely (P/LP)<i>BRCA1/2</i>variants an unselected research cohort, to characterize the features associated with P/LP variants. <h3>Design, Setting, Participants</h3> This is a cross-sectional study adult volunteers (n = 50 726) who underwent exome sequencing at...
In females, most genes on the X chromosome are generally assumed to be transcriptionally silenced inactive as a result of inactivation. However, particularly in humans, an increasing number known “escape” inactivation and expressed from both active (Xa) (Xi) chromosomes; such reflect different molecular epigenetic responses candidates for phenotypes associated with aneuploidy. To identify that escape generate first-generation X-inactivation profile X, we have evaluated expression 224...
The gene encoding the γ chain of lymphocyte interleukin-2 receptor has been cloned and shown to be required associate with β in order for IL-2 internalization cell activation occur (1). We considered this gene, IL2RG, a candidate X-linked form severe combined Immunodeficiency at SCIDX1 locus, which affected males have impaired development. Using fluorescence situ hybridization PCR amplification somatic hybrid DNAs, we mapped IL2RG human Xq13.1, location within critical region established by...