Study of 99 pediatric patients found clinically significant CNVs in 30% of cases, supporting CMA as a first-tier test for developmental delay and ID. Clinically significant CNVs were identified in 30% ...

Abstract: Copy number variations (CNVs) are a type of structural variation in the genome that impact gene dosage, with significant implications for both normal phenotypic variability and ...

With unmatched scale and diversity, GeneDx Infinity™ powers scientific discovery while enabling the most precise clinical rare disease diagnoses for patients and families today At ASHG, GeneDx will ...

Evaluation of scCNV inference methods using a clinical small cell lung cancer (SCLC) dataset. (A) Sensitivity and specificity of the four scCNV inference methods applied to primary and relapse SCLC ...

I've used Savana to detect both CNVs and SVs in a tumor-normal pair with 40x coverage (ONT). But when looking at the SV vcf, I find no matching deletion/duplication as the CNV algorithm. For SV, it ...

Background: Developmental delay (DD) and intellectual disability (ID) are prevalent in children and often have genetic causes, particularly copy number variations (CNVs). Chromosomal microarray ...

*These authors contributed equally to the preparation of this manuscript. Cell-based technologies for printing protein microarrays are faced with poor protein expression, protein insolubility, ...

Article subjects are automatically applied from the ACS Subject Taxonomy and describe the scientific concepts and themes of the article. We recently developed a high-throughput peptide array ...

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...