Concepedia

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan Holder, Geert Mortier, Barbara Delle Chiaie, Miles D. Thompson, Tony Roscioli, Szymon M. Kiełbasa,

The American Journal of Human Genetics · 2012 · 146 citations · 23 references

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23

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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BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K 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

, , +17

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li · Bioinformatics · 2011 · 7.4K citations · Full text

, , +16

SRα Promoter: an Efficient and Versatile Mammalian cDNA Expression System Composed of the Simian Virus 40 Early Promoter and the R-U5 Segment of Human T-Cell Leukemia Virus Type 1 Long Terminal Repeat

Yutaka Takebe, Motoharu Seiki, Jun–ichi Fujisawa et al. · Molecular and Cellular Biology · 1988 · 1.3K citations · Full text

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