WEEKEND READS ๐
Recommended book of the weekend: ๐ ☕
➡️ "GOOGLE IT" By Anna Crowley Redding
๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐๐
CHROMOSOMAL MICROARRAY VS. WHOLE EXOME SEQUENCING
“๐๐ฒ๐ฌ๐ป๐ธ๐ช๐ป๐ป๐ช๐๐ผ ๐ฑ๐ฎ๐ต๐น ๐พ๐ผ ๐ฏ๐ฒ๐ท๐ญ ๐ถ๐ฒ๐ผ๐ผ๐ฒ๐ท๐ฐ ๐ธ๐ป ๐ฎ๐๐ฝ๐ป๐ช ๐ฌ๐ฑ๐ป๐ธ๐ถ๐ธ๐ผ๐ธ๐ถ๐ช๐ต ๐น๐ฒ๐ฎ๐ฌ๐ฎ๐ผ; ๐ฆ๐๐ข ๐ฝ๐ช๐ด๐ฎ๐ผ ๐พ๐ผ ๐ญ๐ฎ๐ฎ๐น๐ฎ๐ป, ๐ฒ๐ท๐ฝ๐ธ ๐ฝ๐ฑ๐ฎ ๐ฌ๐ธ๐ญ๐ฒ๐ท๐ฐ ๐ป๐ฎ๐ฐ๐ฒ๐ธ๐ท๐ผ ๐๐ฑ๐ฎ๐ป๐ฎ ๐ป๐ช๐ป๐ฎ ๐ฟ๐ช๐ป๐ฒ๐ช๐ท๐ฝ๐ผ ๐ฑ๐ฒ๐ญ๐ฎ.” — Ellen Matloff ๐งฌ Chromosomal Microarray (CMA) and Whole Exome Sequencing (WES) are cornerstones of modern genomic diagnostics. Each offers unique insights: CMA identifies large-scale structural changes like copy number variations (CNVs), while WES investigates the exome; the protein-coding portion where most pathogenic mutations reside. ๐น CMA is a first-line tool for neurodevelopmental disorders, intellectual disability, and congenital anomalies. It scans for chromosomal imbalances missed by karyotyping, offering ~15–20% diagnostic yield in such cases. Its speed and cost-effectiveness make it a go-to for initial evaluations. ๐น WES, by contrast, dives into the exonic 1–2% of the genome that harbors ~85% of known disease-causing ...
