Dynamic changes in circulating tumor DNA assessed by shallow whole‐genome sequencing associate with clinical efficacy of checkpoint inhibitors in NSCLC
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Oncology"
DOI: 10.1002/1878-0261.13409
Abstract: Immune checkpoint inhibitors (ICIs) targeting the PD‐1/PD‐L1 axis are the main therapeutic option for patients with advanced non‐small cell lung cancer (NSCLC) without a druggable oncogenic alteration. Nevertheless, only a portion of patients benefit from… read more here.
Keywords: whole genome; checkpoint inhibitors; genome sequencing; benefit ... See more keywords
Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51201
Abstract: The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without… read more here.
Keywords: whole genome; long read; genetic diagnosis; read whole ... See more keywords
Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.537
Abstract: To identify rare causal variants underlying known loci that segregate with late‐onset Alzheimer's disease (LOAD) in multiplex families. read more here.
Keywords: late onset; whole genome; alzheimer disease; genome sequencing ... See more keywords
Polyploidization: Consequences of genome doubling on the evolutionary potential of populations.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of botany"
DOI: 10.1002/ajb2.16029
Abstract: Whole-genome duplication is common in plants and is considered to have a broad range of effects on individuals' phenotypes and genomes, and as an important driver of plant adaptation and speciation. Despite their increased capacity… read more here.
Keywords: consequences genome; genome doubling; heritable variance; evolutionary potential ... See more keywords
Deep targeted sequencing of cytological tumor cells using whole genome amplification
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Cytopathology"
DOI: 10.1002/cncy.22653
Abstract: Genomic profiling in lung cancer is essential for precision medicine. Cytological specimens provide an alternative to formalin‐fixed paraffin‐embedded (FFPE) samples for comprehensive genomic analysis. However, this approach remains challenging when a limited number of tumor… read more here.
Keywords: whole genome; genome amplification; tumor cells; deep targeted ... See more keywords
Past and potential future population dynamics of three grouse species using ecological and whole genome coalescent modeling
Sign Up to like & getrecommendations! Published in 2018 at "Ecology and Evolution"
DOI: 10.1002/ece3.4163
Abstract: Abstract Studying demographic history of species provides insight into how the past has shaped the current levels of overall biodiversity and genetic composition of species, but also how these species may react to future perturbations.… read more here.
Keywords: rock ptarmigan; whole genome; willow grouse; population dynamics ... See more keywords
Cost‐saving population genomic investigation of Daphnia longispina complex resting eggs using whole‐genome amplification and pre‐sequencing screening
Sign Up to like & getrecommendations! Published in 2022 at "Ecology and Evolution"
DOI: 10.1002/ece3.9682
Abstract: Abstract Resting stages of aquatic organisms that accumulate in the sediment over time are an exceptional resource that allows direct insights into past populations and addressing evolutionary questions. This is of particular interest in taxa… read more here.
Keywords: genome amplification; daphnia longispina; resting eggs; daphnia ... See more keywords
Identification of runs of homozygosity in Western honey bees (Apis mellifera) using whole‐genome sequencing data
Sign Up to like & getrecommendations! Published in 2023 at "Ecology and Evolution"
DOI: 10.1002/ece3.9723
Abstract: Abstract Runs of homozygosity (ROH) are continuous homozygous segments that arise through the transmission of haplotypes that are identical by descent. The length and distribution of ROH segments provide insights into the genetic diversity of… read more here.
Keywords: apis mellifera; honey bees; roh; whole genome ... See more keywords
Evaluation of saliva as a source of accurate whole‐genome and microbiome sequencing data
Sign Up to like & getrecommendations! Published in 2021 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22386
Abstract: This study sets out to establish the suitability of saliva‐based whole‐genome sequencing (WGS) through a comparison against blood‐based WGS. To fully appraise the observed differences, we developed a novel technique of pseudo‐replication. We also investigated… read more here.
Keywords: whole genome; accurate whole; evaluation saliva; source accurate ... See more keywords
Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23585
Abstract: 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin (TCDD) or dioxin, is commonly considered the most toxic man‐made substance. Dioxin exposure impacts human health and diseases, birth defects and teratogenesis were frequently observed in children of persons who have been exposed to… read more here.
Keywords: whole genome; dioxin; dioxin exposure; mutation rate ... See more keywords
Clinical whole-genome sequencing in cancer diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24381
Abstract: Characterizing the genomic landscape of cancers is a routine part of clinical care that began with the discovery of the Philadelphia chromosome and has since coevolved with genomic technologies. Genomic analysis of tumors at the… read more here.
Keywords: sequencing cancer; whole genome; genome sequencing; clinical whole ... See more keywords