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Additional file 1: Figure S1. of Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

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posted on 2015-10-29, 05:00 authored by Jessica Larson, Ari Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee Silver
(a) Cartoon schema of differences between SMN1 and SMN2. Loci of interest are highlighted in red. (b) An overview of the method presented. (PDF 379 kb)

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    BMC Medical Genetics

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    1000 Genomes ProjectCarrier testingDNA-seqExome-seqGenetic testingNext-generation sequencing (NGS)SMN1SMN2Spinal muscular atrophy (SMA)

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