Concepedia

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Mariana Moysés‐Oliveira, Adriana Di‐Battista, Malú Zamariolli, Vera Ayres Meloni, Silvia Bragagnolo, Denise Maria Christofolini, Carlos Eduardo Steiner, Nadezda Kosyakova, Thomas Liehr, Alexandre Reymond,

European Journal of Human Genetics · 2019 · 19 citations · 34 references

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34

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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A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

Suhas S.P. Rao, Miriam Huntley, Neva C. Durand et al. · Cell · 2014 · 9.9K citations · Full text

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

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Integrative analysis of 111 reference human epigenomes

Anshul Kundaje, Wouter Meuleman, Jason Ernst et al. · Nature · 2015 · 7.1K citations · Full text

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Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text

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