Cargando…

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

BACKGROUND: Next-generation sequencing (NGS) based population screening holds great promise for disease prevention and earlier diagnosis, but the costs associated with screening millions of humans remain prohibitive. New methods for population genetic testing that lower the costs of NGS without comp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Stoltze, Ulrik Kristoffer, Hagen, Christian Munch, van Overeem Hansen, Thomas, Byrjalsen, Anna, Gerdes, Anne-Marie, Yakimov, Victor, Rasmussen, Simon, Bækvad-Hansen, Marie, Hougaard, David Michael, Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin, Bybjerg-Grauholm, Jonas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10013285/ https://www.ncbi.nlm.nih.gov/pubmed/36918911 http://dx.doi.org/10.1186/s13073-023-01167-6

Ejemplares similares

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification
por: Byrjalsen, Anna, et al.
Publicado: (2023)

Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2023)

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel
por: Byrjalsen, Anna, et al.
Publicado: (2021)

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark
por: Stoltze, Ulrik, et al.
Publicado: (2018)

Implementation of SCID Screening in Denmark
por: Bækvad-Hansen, Marie, et al.
Publicado: (2021)

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

RNA sequencing of archived neonatal dried blood spots
por: Bybjerg-Grauholm, Jonas, et al.
Publicado: (2016)

Evaluation of whole genome amplified DNA to decrease material expenditure and increase quality
por: Bækvad-Hansen, Marie, et al.
Publicado: (2017)

Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2023)

Reduced neonatal brain-derived neurotrophic factor is associated with autism spectrum disorders
por: Skogstrand, Kristin, et al.
Publicado: (2019)

Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study
por: Munch, Tina Nørgaard, et al.
Publicado: (2021)

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
por: Byrjalsen, Anna, et al.
Publicado: (2020)

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
por: Byrjalsen, Anna, et al.
Publicado: (2017)

The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement
por: Munch, Tina N, et al.
Publicado: (2023)

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort
por: Foss-Skiftesvik, Jon, et al.
Publicado: (2022)

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature
por: Jensen, Marlene Richter, et al.
Publicado: (2022)

Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA
por: Gutierrez-Mateo, Cristina, et al.
Publicado: (2019)

Pharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample
por: Lunenburg, Carin A. T. C., et al.
Publicado: (2021)

Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy
por: Schmiegelow, Kjeld, et al.
Publicado: (2017)

Exploring Cuba’s population structure and demographic history using genome-wide data
por: Fortes-Lima, Cesar, et al.
Publicado: (2018)

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
por: Jelsig, Anne Marie, et al.
Publicado: (2021)

Danish premature birth rates during the COVID-19 lockdown
por: Hedermann, Gitte, et al.
Publicado: (2021)

Preterm birth rates among twins during the Danish COVID‐19 lockdown and when restrictions were relaxed
por: Hedley, Paula L., et al.
Publicado: (2022)

Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome
por: Starnawska, A, et al.
Publicado: (2017)

RosettaDDGPrediction for high‐throughput mutational scans: From stability to binding
por: Sora, Valentina, et al.
Publicado: (2023)

Genome-wide association study identifies locus at chromosome 2q32.1 associated with syncope and collapse
por: Hadji-Turdeghal, Katra, et al.
Publicado: (2020)

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
por: Poulsen, Jesper Buchhave, et al.
Publicado: (2016)

Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort
por: Altaraihi, Mays, et al.
Publicado: (2021)

Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
por: Byrjalsen, Anna, et al.
Publicado: (2020)

Schizophrenia-associated mt-DNA SNPs exhibit highly variable haplogroup affiliation and nuclear ancestry: Bi-genomic dependence raises major concerns for link to disease
por: Hagen, Christian M., et al.
Publicado: (2018)

Complex spatio-temporal distribution and genomic ancestry of mitochondrial DNA haplogroups in 24,216 Danes
por: Bybjerg-Grauholm, Jonas, et al.
Publicado: (2018)

Exploring the hereditary background of renal cancer in Denmark
por: Christensen, Maria Bejerholm, et al.
Publicado: (2019)

Preterm birth, stillbirth and early neonatal mortality during the Danish COVID-19 lockdown
por: Hedley, Paula L., et al.
Publicado: (2021)

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
por: Bache, Iben, et al.
Publicado: (2020)

Polygenic risk score, psychosocial environment and the risk of attention-deficit/hyperactivity disorder
por: Østergaard, Søren D., et al.
Publicado: (2020)

Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis
por: Strom, Nora I., et al.
Publicado: (2021)

Editorial: Biomarkers to predict, prevent and find the appropriate treatments of disorders in childhood
por: Skogstrand, Kristin, et al.
Publicado: (2022)

The Duffy-null genotype and risk of infection
por: Legge, Sophie E, et al.
Publicado: (2020)

Maternal diabetes and risk of childhood acute lymphoblastic leukaemia in the offspring
por: Søegaard, Signe Holst, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_f3eiu1ms9q9bb6h06mpb32u3h0