A5047130987- Genomics and Rare Diseases
- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Multiple Myeloma Research and Treatments
- Genetic Associations and Epidemiology
- Ocular Diseases and Behçet’s Syndrome
- melanin and skin pigmentation
- Advanced biosensing and bioanalysis techniques
- Cytomegalovirus and herpesvirus research
- RNA modifications and cancer
- Advanced Proteomics Techniques and Applications
- RNA Research and Splicing
- Genetic and Kidney Cyst Diseases
- Genomics and Phylogenetic Studies
- interferon and immune responses
- Genetic factors in colorectal cancer
- Photoreceptor and optogenetics research
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Glaucoma and retinal disorders
- RNA and protein synthesis mechanisms
- Ocular Surface and Contact Lens
Sema4 (United States)
2019-2021
Baylor Genetics
2016-2018
Baylor College of Medicine
2012-2018
Purpose.: Leber congenital amaurosis (LCA) is an inherited retinal disease that causes early-onset severe visual impairment. To evaluate the mutation spectrum in Chinese population, we performed a screen 145 LCA families. Methods.: First, direct Sanger sequencing of 7 genes 81 Next, developed capture panel enriches entire coding exons and splicing sites 163 known other candidate genes. The allowed us to quickly identify disease-causing mutations large number at relatively low cost. Thus,...
Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles these remain to be fully elucidated, as does the contribution DNA copy-number variants (CNVs) carrier status disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization a clinical diagnostic setting identify deletions encompassing or disrupting genes. identified 3212 heterozygous potential affecting 419...
<h2>Abstract</h2><h3>Purpose</h3> Mutational load of susceptibility variants has not been studied on a genomic scale in clinical population, nor the potential to identify these mutations as incidental findings during testing systematically ascertained. <h3>Methods</h3> Array comparative hybridization, method for genome-wide detection DNA copy-number variants, was performed clinically from 9,005 individuals. Copy-number encompassing or disrupting single genes were identified and analyzed...
The genetic heterogeneity of Mendelian disorders results in a significant proportion patients that are unable to be assigned confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here, we evaluated how many with an inherited retinal disease (IRD) have variants uncertain significance (VUS) disrupting splicing known IRD gene by means other than affecting the canonical dinucleotide splice site. Three silico splice-affecting predictors were leveraged...
Abstract Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic environmental factors. In the present study, we identified four unrelated IRD families with HK1 p.E851K variant, which was previously reported cause autosomal dominant retinitis pigmentosa...
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due clinical and genetic heterogeneity among LCA other retinal diseases, providing patients with molecular diagnosis essential assigning an accurate diagnosis. Using our gene panel targets 300 genes are known cause disease, including 24 reported LCA, we sequenced 43 unrelated probands Brazilian ancestry. We identified 42 unique variants were able assign...
Proteomic profiling on subcellular fractions provides invaluable information regarding both protein abundance and localization. When integrated with other data sets, it can greatly enhance our ability to predict gene function genome-wide. In this study, we performed a comprehensive proteomic analysis the light-sensing compartment of photoreceptors called outer segment (OS). By comparing profile obtained from retina tissue depleted OS, an enrichment score for each is calculated quantify...
Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half all Mendelian diseases remain elusive. One main challenge is high genetic heterogeneity in which similar phenotypes are caused by different and each gene only accounts for a small proportion patients. To overcome this gap, we developed novel method, Gene Ranking, Identification Prediction Tool (GRIPT), performing case-control analysis NGS data. Analyses simulated real...
Abstract Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about 50% Mendelian diseases remain elusive. One main challenge is high genetic heterogeneity in which similar phenotypes are caused by different and each gene only accounts for a small proportion patients. To overcome this gap, we developed novel method, Gene Ranking, Identification Prediction Tool (GRIPT), performing case-control analysis NGS data. Analyses simulated...
e13155 Background: Next generation sequencing (NGS) technology is transforming the diagnosis and treatment of cancer. However, massive scale data has overwhelmed pathologists who need streamlined tools to process this data, automate report minimize human errors. Methods: We developed Variant interpretation station for ONCology, VONC, as an end-to-end solution moving from NGS whole exome transcriptome actionable clinical reports that support cancer diagnosis, prognosis, personalized...
Abstract Background: Epidemiologic studies have shown familial aggregations of multiple myeloma (MM) and other hematologic malignancies, but little is known about heritable genetic susceptibilities in these patients. The purpose this study to investigate the prevalence germline cancer-predisposing mutations (CPM) patients with (MM). Methods: We analyzed a set 895 newly diagnosed MM from Multiple Myeloma Research Foundation (MMRF) CoMMpass registry for whom whole-exome sequencing DNA data was...