Concepedia

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn’s Disease

Leila Amininejad, Benoît Charloteaux, Emilie Théâtre, Claire Liefferinckx, Julia Dmitrieva, Pierre Hayard, V Muls, J. Maisin, Michaël Schapira, Jean-Michel Ghislain,

Gastroenterology · 2018 · 30 citations · 49 references

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49

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

Bryan Howie, Peter Donnelly, Jonathan Marchini · PLoS Genetics · 2009 · 4.1K citations · Full text

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Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

Ivan Adzhubei, Daniel M. Jordan, Shamil Sunyaev · Current Protocols in Human Genetics · 2013 · 3.8K citations

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