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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…
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Keywords:
number variant;
disease;
targeted copy;
copy number ... See more keywords
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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…
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Keywords:
isolation single;
number variant;
copy number;
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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…
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Keywords:
transcription;
copy number;
formation;
number variant ... See more keywords
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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…
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Keywords:
copy number;
spark;
apache spark;
number variant ... See more keywords