Cargando…

Genome-wide cell-free DNA screening: a focus on copy-number variants

PURPOSE: Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening. METHODS: Cases positive for one o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rafalko, Jill, Soster, Erica, Caldwell, Samantha, Almasri, Eyad, Westover, Thomas, Weinblatt, Vivian, Cacheris, Philip
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486654/ https://www.ncbi.nlm.nih.gov/pubmed/34155363 http://dx.doi.org/10.1038/s41436-021-01227-5

Ejemplares similares

Application of mosaicism ratio to multifetal gestations
por: Rafalko, Jill, et al.
Publicado: (2021)

Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations
por: Soster, Erica, et al.
Publicado: (2023)

Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants
por: Soster, Erica, et al.
Publicado: (2021)

Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray
por: Soster, Erica, et al.
Publicado: (2023)

Impact of mosaicism ratio on positive predictive value of cfDNA screening
por: Rafalko, Jill M., et al.
Publicado: (2020)

Not all low fetal fraction cell‐free DNA screening failures are at increased risk for aneuploidy
por: Caldwell, Samantha, et al.
Publicado: (2021)

Cell‐free DNA screening in twin pregnancies: A more accurate and reliable screening tool
por: Chibuk, Jason, et al.
Publicado: (2020)

Genome-wide Sequencing of Cell-free DNA Enables Detection of Copy-number Alterations in Patients with Cancer Where Tissue Biopsy is Not Feasible
por: Jensen, Taylor J., et al.
Publicado: (2021)

A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory
por: Dyr, Brittany, et al.
Publicado: (2019)

A Genome-Wide Copy Number Variant Study of Suicidal Behavior
por: Gross, Jeffrey A., et al.
Publicado: (2015)

A genome-wide assessment of rare copy number variants in colorectal cancer
por: Li, Zhenli, et al.
Publicado: (2015)

Identification of copy number variants in horses
por: Doan, Ryan, et al.
Publicado: (2012)

Copy Number Variants in Alzheimer’s Disease
por: Cuccaro, Denis, et al.
Publicado: (2016)

Copy number variants in Ebstein anomaly
por: Giannakou, Andreas, et al.
Publicado: (2017)

Psychopathology in adults with copy number variants
por: Adams, Rachael L., et al.
Publicado: (2023)

Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding
por: Sbacchi, Silvia, et al.
Publicado: (2010)

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience
por: Soster, Erica, et al.
Publicado: (2023)

Genome-Wide Association Study Identified Copy Number Variants Important for Appendicular Lean Mass
por: Ran, Shu, et al.
Publicado: (2014)

A Genome-Wide Assessment of the Role of Untagged Copy Number Variants in Type 1 Diabetes
por: Zanda, Manuela, et al.
Publicado: (2014)

Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array
por: Molin, Anna-Maja, et al.
Publicado: (2014)

Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population
por: Frenkel, Svetlana, et al.
Publicado: (2019)

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients
por: Uebe, Steffen, et al.
Publicado: (2017)

A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes
por: Strillacci, Maria G., et al.
Publicado: (2021)

Bias of Selection on Human Copy-Number Variants
por: Nguyen, Duc-Quang, et al.
Publicado: (2006)

The Effect of Algorithms on Copy Number Variant Detection
por: Tsuang, Debby W., et al.
Publicado: (2010)

Endometriosis Is Associated with Rare Copy Number Variants
por: Chettier, Rakesh, et al.
Publicado: (2014)

Copy Number Variants in the Kallikrein Gene Cluster
por: Lindahl, Pernilla, et al.
Publicado: (2013)

Copy Number Variants in German Patients with Schizophrenia
por: Priebe, Lutz, et al.
Publicado: (2013)

Functional consequences of copy number variants in miscarriage
por: Wen, Jiadi, et al.
Publicado: (2015)

Schizophrenia copy number variants and associative learning
por: Clifton, N E, et al.
Publicado: (2017)

Editorial: Copy Number Variants in Neurological Disorder
por: Gentile, Giulia, et al.
Publicado: (2018)

Neurologic Features with Pathogenic Copy Number Variants
por: Coryell, Jason
Publicado: (2020)

Zebrafish as a tool to study schizophrenia-associated copy number variants
por: Campbell, Philip D., et al.
Publicado: (2020)

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours
por: Walker, Logan C., et al.
Publicado: (2012)

Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants
por: Nawrocka, Paulina Maria, et al.
Publicado: (2021)

Proteome-wide copy-number estimation from transcriptomics
por: Sweatt, Andrew J., et al.
Publicado: (2023)

Genome-wide copy number variant analysis reveals variants associated with 10 diverse production traits in Holstein cattle
por: Zhou, Yang, et al.
Publicado: (2018)

Advantage of Using Allele-Specific Copy Numbers When Testing for Association in Regions with Common Copy Number Variants
por: Marenne, Gaëlle, et al.
Publicado: (2013)

Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies
por: Estivill, Xavier, et al.
Publicado: (2007)

Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics
por: Ghani, Mahdi, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_6livpgbtpihgg76vug8je8jljk