Targeted copy number variant identification across the neurodegenerative disease spectrum
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1986
Abstract: Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and… read more here.
Keywords: number variant; disease; targeted copy; copy number ... See more keywords
Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6275
Abstract: To develop a multi‐step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi‐automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number… read more here.
Keywords: isolation single; number variant; copy number;
Locus-specific transcription silencing at the FHIT gene suppresses replication stress-induced copy number variant formation and associated replication delay
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkab559
Abstract: Abstract Impaired replication progression leads to de novo copy number variant (CNV) formation at common fragile sites (CFSs). We previously showed that these hotspots for genome instability reside in late-replicating domains associated with large transcribed… read more here.
Keywords: transcription; copy number; formation; number variant ... See more keywords
DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
Sign Up to like & getrecommendations! Published in 2019 at "BMC Bioinformatics"
DOI: 10.1186/s12859-019-3108-7
Abstract: BackgroundXHMM is a widely used tool for copy-number variant (CNV) discovery from whole exome sequencing data but can require hours to days to run for large cohorts. A more scalable implementation would reduce the need… read more here.
Keywords: copy number; spark; apache spark; number variant ... See more keywords