Showing results 2 to 6 of 6
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Title | Author(s) | Issue Date | Views | |
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Genetics of congenital megacolon in East Asians Proceeding/Conference:Annual Meeting of the American Society of Human Genetics | 2018 | 56 | ||
Genetic profile of a multiplex Hirschsprung disease family Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | 103 | ||
Copy Number Variations (CNVs) analysis of Hirschsprung Disease (HSCR) using Whole Genome Sequencing (WGS) data Proceeding/Conference:The 5th International Symposium on Development of the Enteric Nervous System: cells, signals genes and therapy, 2018 | 2018 | 63 | ||
A random forest-based framework for genotyping and accuracy assessment of copy number variations Journal:NAR Genomics and Bioinformatics | 2020 | |||
A new machine-learning based method to accurately assess copy number variants from whole genome sequencing data and its application on the analysis of the Hirschsprung disease genome Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting | 2019 | 61 |