Now showing items 1-10 of 12
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
(Genetics in medicine : official journal of the American College of Medical Genetics, 2018-04)
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with ...
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
(PLoS Genetics, 2010-06-17)
Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals.
(PLoS Pathog, 2010-02-26)
There is great interindividual variability in HIV-1 viral setpoint after seroconversion, some of which is known to be due to genetic differences among infected individuals. Here, our focus is on determining, genome-wide, ...
Contributions of Mamu-A*01 status and TRIM5 allele expression, but not CCL3L copy number variation, to the control of SIVmac251 replication in Indian-origin rhesus monkeys.
(PLoS genetics, 2010)
CCL3 is a ligand for the HIV-1 co-receptor CCR5. There have recently been conflicting reports in the literature concerning whether CCL3-like gene (CCL3L) copy number variation (CNV) is associated with resistance to HIV-1 ...
Determinants of protection among HIV‐exposed seronegative persons: an overview.
(J Infect Dis, 2010-11-01)
Both clinical experience and a growing medical literature indicate that some persons who have been exposed to human immunodeficiency virus (HIV) infection remain uninfected. Although in some instances this may represent ...
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.
(Genome Biol, 2010)
BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
Host genetics and HIV-1: the final phase?
(PLoS Pathog, 2010-10-14)
This is a crucial transition time for human genetics in general, and for HIV host genetics in particular. After years of equivocal results from candidate gene analyses, several genome-wide association studies have been published ...
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
(Genet Med, 2014-10)
PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. ...
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
(J Alzheimers Dis, 2010)
Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted ...
The characterization of twenty sequenced human genomes.
(PLoS Genet, 2010-09-09)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...