Genetic Testing

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Genomic Sequencing History

The trajectory from first generation sequencing (Sanger), to Next Generation Sequencing (NGS) to whole exome to whole genome.

Resources

Genetic Testing - Members Subpage

Genetic Testing: Current Approaches

Sequence Variants - ACMG 2015.pdf - 349 KB (f)

Variant classification expansion - ACMG 2022.pdf - 3.49 MB (f)

Rare disease NGS approaches - Vinksel 2020.pdf - 388 KB (f)

Whole genome sequencing lessons and pitfalls - Record 2024.pdf - 3.86 MB (f)