Robuta

https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2021.684326/full
Killer cell immunoglobulin-like receptors (KIR) regulate immune responses in NK and CD8+ T cells via interaction with HLA ligands. KIR genes, including KIR2D...
large scalecopy numberfrontiersimputationkir
https://www.mdpi.com/2673-5261/2/2/13
Somatic copy number variations (CNV; i.e., amplifications and deletions) have been implicated in the origin and development of multiple cancers and some of...
copy number variationssolid tumorsanalysisusing
https://pubmed.ncbi.nlm.nih.gov/34272470/
Gatekeeper mutations are identified in only 50% of the cases at resistance to Anaplastic Lymphoma Kinase (ALK)-tyrosine kinase inhibitors (TKIs). Circulating...
circulating tumor cellcopy numberheterogeneityalknon
https://elifesciences.org/articles/70382
An ethnically robust pipeline for inferring mitochondrial DNA copy number from genotyping arrays was developed and applied to the UKBiobank, elucidating...
mitochondrial dnacopy numbergwasblood
https://pubmed.ncbi.nlm.nih.gov/24599517/
Copy number variation (CNV) has been found to play an important role in human disease. Next-generation sequencing technology, including whole-genome sequencing...
copy number variationevaluationdetectiontoolswhole
https://pubmed.ncbi.nlm.nih.gov/33859130/
Based on the theory of genotype-phenotype correlation with EYA4 mutations in terms of hearing loss and comorbid dilated cardiomyopathy, the region of amino...
copy number variationidentificationnovelcausing
https://elifesciences.org/articles/11994v1
copy numberwith theexpansionassociatedevolution
https://cnv.gene-quantification.info/
The gene copy number (also \
copy number variantsvariation
https://pubmed.ncbi.nlm.nih.gov/29338700/
After publication of the original article [1] the authors found that the article contained an incorrect version of Fig. 4. This does not affect the results and...
copy numbercorrectionsystematiccomparisonalterations
https://www.mdpi.com/2072-6694/13/24/6283
Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural...
copy number variationcomparisontoolsdetection