Articles with "snvs indels" as a keyword



Photo by kellysikkema from unsplash

Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis.

Sign Up to like & get
recommendations!
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),… read more here.

Keywords: snvs indels; clonal hematopoiesis; single nucleotide; number ... See more keywords
Photo by jplenio from unsplash

Lightning-fast genome variant detection with GROM

Sign Up to like & get
recommendations!
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… read more here.

Keywords: lightning fast; snvs indels; detection; genome variant ... See more keywords
Photo from wikipedia

Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies

Sign Up to like & get
recommendations!
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… read more here.

Keywords: snvs indels; disease causing; single test; indels cnvs ... See more keywords