Table 1.
Datasets used for the calculation of baseline and disease-associated MND in Latin American individuals.
| Dataset Origin | Short Name | # of Samples | # Pairs/ Trios |
Usage |
|---|---|---|---|---|
| 1000 Genomes Project Phase 3 | 1kGP-ALL | 3202 | 602 | To determine AMR, EUR, and AFR haplotype references |
| 1000 Genomes Project Phase 3 | 1kGP-AMR | 385 | 98 | To describe MND and ∆MND in healthy Latin American individuals |
| DECIPHERD | DRD-healthy | 63 | 0 | To describe MND in healthy Chilean individuals |
| DECIPHERD | DRD-affected | 75 | 0 | To describe MND in affected Chilean individuals |
| DECIPHERD | DRD-pairs | 64 | 32 | To describe ∆MND in affected Chilean mother–offspring pairs |
| 22q11.2DS—Chile | 22q-CHL | 58 | 0 | To describe MND in a known disease |
| 22q11.2DS—Argentina | 22q-ARG | 26 | 13 | To describe MND and ∆MND in a known disease |
DECIPHERD: Decoding Complex Inherited Phenotypes in Rare Disorders Project. DS: Deletion Syndrome. AMR: American. EUR: European. AFR: African.