Concepedia

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing

Weiguo Sui, Minglin Ou, Jinlong Liang, Min Ding, Jiejing Chen, Wei Liu, Ruo Xiao, Xiaohua Meng, Lijuan Wang, Xiaohua Pan,

Gene · 2013 · 23 citations · 22 references

Concepts

Life SciencesGeneticsMolecular GeneticsBone MetabolismGenomicsMedical GeneticsBone Metabolism GeneticsDna SequencingRare Disease GenomicsSequencing-based DiagnosticsSkeletal PathologyDisease Gene IdentificationExome SequencingPathogenic Gene IdentificationWhole Exome Sequencing StudiesWhole-exome Sequencing Analysis

References

22

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

Life Sciences, Bioinformatics, Biology +16

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

SOAP2: an improved ultrafast tool for short read alignment

Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations

Life Sciences, Bioinformatics, Molecular Biology +17

Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in <i>NOTCH1</i>

Nishant Agrawal, Mitchell J. Frederick, Curtis R. Pickering et al. · Science · 2011 · 1.7K citations

Medicine, Genetics, Oncology +16