Concepedia

Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases

Chen Chi-bo, Jacob Shujui Hsu, Pei‐Lung Chen, Jia‐Feng Wu, Huei-Ying Li, Bang‐Yu Liou, Mei‐Hwei Chang, Yen‐Hsuan Ni, Wuh‐Liang Hwu, Yin‐Hsiu Chien,

The Journal of Pediatrics · 2023 · 17 citations · 24 references

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References

24

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

, , +17

Predicting Splicing from Primary Sequence with Deep Learning

Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae et al. · Cell · 2019 · 2.9K citations · Full text

, , +14

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

, , +14