Genome-wide cell-free DNA screening: a focus on copy-number variants
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DOI: 10.1038/s41436-021-01227-5
Abstract: Purpose Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening.… read more here.
Keywords: genome wide; cfdna screening; cell free; wide cell ... See more keywords
Diagnostic outcomes from a combined Pediatric Dermatology‐Genetics clinic
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15035
Abstract: Multispecialty clinics can be exceedingly helpful for diagnostically challenging and clinically complicated patients. This study highlights the diagnostic outcomes of the multispecialty Pediatric Dermatology‐Genetics clinic at Children's Mercy‐Kansas City over a 5‐year period. read more here.
Keywords: pediatric dermatology; dermatology; dermatology genetics; genetics clinic ... See more keywords