Perspectives of Rare Disease Experts on Newborn Genome Sequencing
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.12231
Abstract: Key Points Question Do rare disease experts endorse genome sequencing of newborns to screen for treatable genetic diseases, and do they agree on which genes to include? Findings In this survey study of 238 rare… read more here.
Keywords: rare disease; genome sequencing; disease; perspectives rare ... See more keywords
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
Complete genome sequencing and comparative genome analysis of the extremely halophilic archaea, Haloterrigena daqingensis.
Sign Up to like & getrecommendations! Published in 2021 at "Biotechnology and applied biochemistry"
DOI: 10.1002/bab.2220
Abstract: In the present study, we report the complete genome sequencing of Haloterrigena daqingensis type species. The genome of H. daqingensis JX313T consisted of a circular chromosome with three plasmids. The genome size and G+C content… read more here.
Keywords: daqingensis; haloterrigena daqingensis; genome sequencing; genome analysis ... See more keywords
Genome sequencing in congenital cataracts improves diagnostic yield
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24240
Abstract: Congenital cataracts are one of the major causes of childhood‐onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we… read more here.
Keywords: genome sequencing; diagnostic yield; congenital cataracts; sequencing congenital ... See more keywords
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24274
Abstract: Isolated complex I deficiency is the most common cause of pediatric mitochondrial disease. Exome sequencing (ES) has revealed many complex I causative genes. However, there are limitations associated with identifying causative genes by ES analysis.… read more here.
Keywords: deletion ndufv2; complex deficiency; genome sequencing; mitochondrial complex ... 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
Genome sequencing and molecular characterisation of XDR Acinetobacter baumannii reveal complexities in resistance: Novel combination of sulbactam-durlobactam holds promise for therapeutic intervention.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of cellular biochemistry"
DOI: 10.1002/jcb.30156
Abstract: Emerging nosocomial strains of Acinetobacter baumannii are of recent concern as they are expressing extensive drug resistance (XDR). Using whole-genome sequencing and molecular characterisation analysis, the current study reveals the presence of carbapenemase genes in… read more here.
Keywords: genome sequencing; kcal mol; resistance; sequencing molecular ... See more keywords
Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1281
Abstract: Advances in genomic medicine have evolved to include rapid whole genome sequencing (rWGS) in pediatric intensive care settings. Traditionally, genetic testing was conducted in outpatient clinics, with stepwise genetic testing occurring over several years. This… read more here.
Keywords: whole genome; rapid whole; odyssey program; ethnically diverse ... See more keywords
Whole‐genome sequencing and genome‐scale metabolic modeling of Chromohalobacter canadensis 85B to explore its salt tolerance and biotechnological use
Sign Up to like & getrecommendations! Published in 2022 at "MicrobiologyOpen"
DOI: 10.1002/mbo3.1328
Abstract: Salt tolerant organisms are increasingly being used for the industrial production of high‐value biomolecules due to their better adaptability compared to mesophiles. Chromohalobacter canadensis is one of the early halophiles to show promising biotechnology potential,… read more here.
Keywords: canadensis; genome sequencing; chromohalobacter canadensis; whole genome ... See more keywords