Results 111 to 120 of about 98,141 (333)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

Genomic Alteration Burden in Advanced Prostate Cancer and Therapeutic Implications. [PDF]

open access: yes, 2019
The increasing number of patients with sequenced prostate cancer genomes enables us to study not only individual oncogenic mutations, but also capture the global burden of genomic alterations.
Bose, Rohit, Ryan, Matthew J
core   +1 more source

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

open access: yes, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne   +5 more
core   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou   +8 more
wiley   +1 more source

Author Correction: Selective advantage of trisomic human cells cultured in non-standard conditions

open access: yesScientific Reports, 2022
Samuel D. Rutledge   +9 more
doaj   +1 more source

Aneuploidy Drives Genomic Instability in Yeast [PDF]

open access: yes, 2011
Aneuploidy decreases cellular fitness, yet it is also associated with cancer, a disease of enhanced proliferative capacity. To investigate one mechanism by which aneuploidy could contribute to tumorigenesis, we examined the effects of aneuploidy on ...
A. Amon   +27 more
core   +2 more sources

Supplementary Methods from Ckap2 Regulates Aneuploidy, Cell Cycling, and Cell Death in a p53-Dependent Manner [PDF]

open access: gold, 2023
Katsuya Tsuchihara   +13 more
openalex   +1 more source

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