Concepedia

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope,

The American Journal of Human Genetics · 2022 · 164 citations · 43 references

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43

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

, , +17

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

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 · 12.4K citations · Full text

, , +14

Tandem repeats finder: a program to analyze DNA sequences

Gary Benson · Nucleic Acids Research · 1999 · 9.9K citations

, , +13

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text

, , +17