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. 2021 Sep 20;59(9):840–849. doi: 10.1136/jmedgenet-2021-107965

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Flow chart of the study. ACMG, American College of Medical Genetics; ALS, amyotrophic lateral sclerosis; BWA: Burrows-Wheeler Aligner; GATK: The Genome Analysis Toolkit; GI, group I, causative genes; GII, group II, new, needing to be confirmed or risk genes; GnomAD-EAS, Genome Aggregation Database-East Asian; IGV: Integrative Genomics Viewer; P/LP, pathogenic or likely pathogenic; RP-PCR, repeat-primed PCR; SKAT, sequencing kernel association test; VUS, variants of uncertain significance.