Concepedia

Genomic profiling informs diagnoses and treatment in vascular anomalies

Dong Li, Sarah E. Sheppard, Michael March, Mark R. Battig, Lea F. Surrey, Abhay Srinivasan, Leticia S. Matsuoka, Lifeng Tian, Fengxiang Wang, Christoph Seiler,

Nature Medicine · 2023 · 62 citations · 44 references

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44

Fast and accurate short read alignment with Burrows–Wheeler transform

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

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

Tom Smith, Andreas Heger, Ian Sudbery · Genome Research · 2017 · 2.4K citations · Full text

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