European Journal of Medical Genetics · 2019 · 18 citations · 16 references
Hungarian FamilyAutoimmune DiseaseDisease MechanismGenetic DisorderGeneticsPathogenesisPathologyDegenerative DiseaseNovel Pathogenic VariantMolecular GeneticsDisease Gene IdentificationMedicine
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text