Concepedia

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Rehan Sadiq Shaikh, Peggy Reuter, Robert A. Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad Imran Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger,

European Journal of Human Genetics · 2014 · 34 citations · 38 references

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38

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

A new generation of Ca2+ indicators with greatly improved fluorescence properties.

Grzegorz Grynkiewicz, Martin Poenie, Roger Y. Tsien · Journal of Biological Chemistry · 1985 · 21.7K citations · Full text

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 · 12.1K citations · Full text

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An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.1K citations · Full text

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Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.1K citations · Full text