Hao Yu
The application and challenges of ChatGPT in educational transformation: New demands for teachers' roles
Heliyon
compound heterozygous ch variants occur two recessive alleles inherited variants located different loci within gene given individual ch variants important contributors many different types recessively inherited diseases however many studies overlook ch variants identification type variant requires knowing parent origin nucleotide using computational methods haplotypes inferred using process called phasing estimates chromosomal origin nucleotides paper used germline phased wholegenome sequencing wgs data identify ch variants across seven pediatric diseases adolescent idiopathic scoliosis n 16 congenital heart defects n 709 disorders sex development n 79 ewing sarcoma n 287 neuroblastoma n 259 orofacial cleft n 107 syndromic cranial dysinnervation n 172 available parentchild trios gabriella miller kids first data resource center relatively little understood genetic underpinnings diseases classified ch variants potentially damaging based minor allele frequencies maf combined annotation dependent depletion scores variant impact transcription translation genelevel frequencies disease group compared healthy population comparison also identified homozygous alternate ha variants affect gene copies single locus ha variants represent alternative mechanism recessive disease development require phasing across diseases 26 samples potentially damaging ch variant 162 potentially damaging ha variant samples potentially damaging variants average number genes per sample 1 ch variant 125 ha variant across samples 51 genes per disease ch variant 356 genes per disease ha variant average 43 variants affected common genes therefore seeking identify potentially damaging variants putatively recessive disease ch variants considered potential contributors disease development ch variants excluded analysis important candidate genes may overlooked