SNP FASST3, an adaptive algorithmic approach for accurate mosaic detection of CNV and LOH spanning technologies
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Co-Author - Daniel Saul, MS; Presenting Author - Sam Dougaparsad, PhD; Co-Author - Megan Roytman, PhD; Co-Author - Westley Sherman, PhD; Co-Author - Soheil Shams, PhD; Co-Author - Shalini Verma, MS; Co-Author - Neil Miller, PhD;
Meta Tag
Clinical Applications of Molecular Cytogenetics
Genomic Methodologies
Microarray
Molecular Cytogenetics
Variant Detection
Co-Author Daniel Saul, MS
Co-Author Megan Roytman, PhD
Co-Author Westley Sherman, PhD
Co-Author Soheil Shams, PhD
Co-Author Shalini Verma, MS
Co-Author Neil Miller, PhD
Presenting Author Sam Dougaparsad, PhD
Keywords
Bionano Genomics
SNP-FASST3 algorithm
NxClinical software
copy-number variant
loss-of-heterozygosity
mosaic changes
allele fraction
ACMG/ClinGen CNV interpretation guidelines
Hidden Markov Model
massive deep coverage data

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