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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants |
Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim |
Genomics Inform. 2015;13(2):31-39. Published online June 30, 2015 DOI: https://doi.org/10.5808/GI.2015.13.2.31 |
Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease Large-scale detection of rare variants via pooled multiplexed next-generation sequencing: towards next-generation Ecotilling Next generation sequencing and rare genetic variants: From human population studies to medical genetics Analysis of Structural Chromosome Variants by Next Generation Sequencing Methods Next Generation Exome Sequencing of paediatric Asthma Identifies Rare and Novel Variants in Candidate Genes Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing) SNP Discovery through
De Novo
Deep Sequencing Using the next Generation of DNA Sequencers Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data |