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Published in 2021 at "Nature medicine"
DOI: 10.1038/s41591-021-01411-9
Abstract: Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the development of hematological malignancies (HM) and cardiovascular diseases. Previous studies of CH analyzed either single-nucleotide variants and indels (SNVs/indels) or copy number alterations (CNAs),…
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Keywords:
snvs indels;
clonal hematopoiesis;
single nucleotide;
number ... See more keywords
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Published in 2017 at "GigaScience"
DOI: 10.1093/gigascience/gix091
Abstract: Abstract Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users…
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Keywords:
lightning fast;
snvs indels;
detection;
genome variant ... See more keywords
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Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.635703
Abstract: Background: Epileptic encephalopathies (EEs) are a pediatric entity with highly phenotypic and genetic heterogeneity. Both single nucleotide variants (SNVs)/Indels and copy number variations (CNVs) could be the causes. Whole exome sequencing (WES) is widely applied…
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Keywords:
snvs indels;
disease causing;
single test;
indels cnvs ... See more keywords