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Additional file 2: Table 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
MLPA probes details. (XLS 25 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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