ArticleFrontiers in genetics2021
A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Graph-based deep reinforcement learning for haplotype assembly with Ralphi.Genome research · 2025Article
- A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.The Journal of biological chemistry · 2025Article
- Using existing pediatric cancer data from the Gabriella Miller Kids First Data Resource Program.JNCI cancer spectrum · 2023Article
- Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank.Nature genetics · 2023Article
- Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2022Article
- Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.HGG advances · 2022Article
- trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.BMC bioinformatics · 2021Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Compound heterozygous (CH) variants occur when two recessive alleles are inherited and the variants are located at different loci within the same gene in a given individual. CH variants are important contributors to many different types of recessively inherited diseases. However, many studies overlook CH variants because identification of this type of variant requires knowing the parent of origin for each nucleotide. Using computational methods, haplotypes can be inferred using a process called "phasing," which estimates the chromosomal origin of most nucleotides. In this paper, we used germline, phased, whole-genome sequencing (WGS) data to identify CH variants across seven pediatric diseases (adolescent idiopathic scoliosis:
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