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. 2025 Jul 24;16(8):868. doi: 10.3390/genes16080868
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