Sequence and copy number variant detection in autosomal recessive conditions utilizing tiered-testing approach
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Co-Author - Abby Stevens, MS; Co-Author - Anjana Varma, MS, MSGC; Presenting Author - Megan Martin, MS, CGC; Co-Author - Colleen G. Bilancia, PhD;
Meta Tag
array CGH
Chromosomal Abnormalities
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Exome sequencing
Genetic Testing
Microarray
Co-Author Abby Stevens, MS
Co-Author Anjana Varma, MS, MSGC
Co-Author Colleen G. Bilancia, PhD
Presenting Author Megan Martin, MS, CGC
Keywords
tiered-testing approach
chromosomal microarray analysis
CMA
whole exome sequencing
WES
autosomal recessive neurodevelopmental disorders
copy number variants
sequence variants
genomic detection
medical guidelines

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