A5034794364- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Marine and coastal plant biology
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Coral and Marine Ecosystems Studies
- Lichen and fungal ecology
- Cystic Fibrosis Research Advances
- Plant responses to water stress
- Genetic Syndromes and Imprinting
- Aeolian processes and effects
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Plant Pathogens and Fungal Diseases
- Marine Ecology and Invasive Species
- Prenatal Screening and Diagnostics
- Coastal wetland ecosystem dynamics
- Plant and animal studies
- Echinoderm biology and ecology
- Marine Biology and Ecology Research
San Francisco State University
2017-2021
Abstract BACKGROUND By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk transmitting an autosomal recessive or X-linked condition. Detection at-risk couples depends on number conditions tested, prevalence respective diseases, and screen's analytical sensitivity for disease-causing variants. Disease-level is often <100% in ECS tests because copy (CNVs) are typically not interrogated their technical...
Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences PMS2 and PMS2CL are so similar that next-generation sequencing (NGS) short fragments—common practice multigene HCS panels—may identify presence variant but fail disambiguate whether origin or pseudogene. Molecular approaches utilizing longer DNA fragments, such as long-range PCR...
Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure correct such could have serious consequences for patients, who may follow an unwarranted screening or surgical management path. It has been suggested that routine orthogonal confirmation by Sanger is required verify NGS results, especially low-confidence positives with depressed allele...
Abstract Temporal genetic studies of low‐dispersing organisms are rare. Marine invertebrates lacking a planktonic larval stage expected to have lower dispersal, low gene flow, and higher potential for local adaptation than with dispersal. Leptasterias is genus brooding sea stars containing several cryptic species complexes. Population methods were used resolve patterns fine‐scale population structure in central California using three loci from nuclear mitochondrial genomes. Historic samples...
ABSTRACT Clinical genomic tests increasingly utilize a next generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In hereditary cancer screening, failure correct such could have serious consequences for patients, who may follow an unwarranted screening or surgical-management path. It has been suggested that routine orthogonal confirmation via Sanger is required verify NGS results, especially low-confidence positives with...
ABSTRACT Purpose By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess risk transmitting an autosomal recessive or X-linked condition. Detection at-risk couples depends on the number conditions tested, diseases’ respective prevalences, and screen’s sensitivity for disease-causing variants. Here we present analytical validation a 235-gene sequencing-based ECS with full coverage coding regions, targeted assessment...
Abstract Background Hereditary cancer screening (HCS) for germline variants in the 3’ exons of PMS2 , a mismatch repair gene implicated Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL . Sequences and are so similar that next-generation sequencing (NGS) short fragments—common practice multigene HCS panels—may identify presence variant but fail disambiguate whether origin or pseudogene. Molecular approaches utilizing longer DNA fragments, such as...