Whole Genome Sequencing: What Can You Expect?

[@Thabiiwabii]

I’m a 3rd year Molecular Medicine student and this video really helped me understand WGS 😭🙏🏽

[@Drsilmi]

Can genetic sequencing detect chromosomal abnormalities/aberrations?

[@kevinnavarrohernandez8649]

No, for chromosomal abnormalities the tests used are karyotyping and/or fluorescent in-situ hybridization (FISH)

[@sornnujahkathir3117]

Depending on the type of chromosomal aberration, you may be able to detect them through WGS. Long read sequencing may perform better when detecting certain abnormalities, such as balanced translocations.

[@Drsilmi]

@@sornnujahkathir3117 okay let’s say a trisomy or a monosomy ?