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Table 1 | BMC Medical Genomics

Table 1

From: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure

Table 1

Variants identified by NGS data re-analysis. List of variants identified re-analyzing NGS data using the GenomSys software. Raw sequencing data were re-aligned and variants calling performed. Green square refers to patients affected by kidney diseases; light blue square refers to patients affected by liver diseases. All variants were identified in heterozygous state.ID Pts: patient identification code; Coding seq: coding sequence; RefSeq: reference sequence; ACMG: American College of Medical Genetics and Genomics; pre-seg: pre-segregation; post-seg: post-segregation; del: deletion; C4: Likely pathogenic variant; C3: variant of unknown significance (VUS); C2: likely benign; NS: not segregated

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BMC Medical Genomics

ISSN: 1755-8794

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