| CMA | Chromosomal Microarray |
| NDD | Neurodevelopmental Disorders |
| CNV | Copy Number Variation |
| ASD | Autism Spectrum Disorder |
| GO | Gene Ontology |
| MGI | Mouse Genome Informatics |
| pLI | Probability of being Loss-of-function-Intolerant |
| LOEUF | Loss-of-function Observed/Expected Upper bound Fraction |
| sHet | Selection coefficient against heterozygous loss-of-function variants |
| pHaplo | Probability of haploinsufficiency |
| pTriplo | Probability of triplosensitivity |
| HIPPIE | Human Integrated Protein–Protein Interaction rEference |
| NDEx | Network Data Exchange |
| SFARI | Simons Foundation Autism Research Initiative |
| OMIM | Online Mendelian Inheritance in Man |
| GTG | Giemsa (G-banding technique) |
| MLPA | Multiplex Ligation-dependent Probe Amplification |
| DGV | Database of Genomic Variants |
| SNV | Single Nucleotide Variant |
| indel | Insertion-deletion (variant) |
| CGH | Comparative Genomic Hybridization |
| MANE | Matched Annotation from NCBI and EMBL-EBI |
| UCSC | University of California, Santa Cruz (Genome Browser) |
| GRCh38 | Genome Reference Consortium Human Build 38 |
| RNA | Ribonucleic Acid |
| TF | Transcription Factor |
| lncRNA | Long Non-Coding RNA |
| STRING | Search Tool for the Retrieval of Interacting Genes/Proteins |
| MCL | Markov Cluster Algorithm |