Concepedia

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James Keating, Outi Mäkitie, Davide Pareyson, Leena Vainionpää, Jenni Lahtinen, Iiris Hovatta,

The American Journal of Human Genetics · 2012 · 172 citations · 29 references

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29

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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

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

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Telomere measurement by quantitative PCR

Richard Cawthon · Nucleic Acids Research · 2002 · 3.5K citations · Full text

, , +14

Prediction of deleterious human alleles

Shamil Sunyaev · Human Molecular Genetics · 2001 · 1K citations

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