Number of sequence variants after the step-by-step filtration and prioritization in KGGSeq.
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Notes: 1: Dominant mode only considered with variants in heterozygous genotypes and with shared alleles between the two patients; 2: The rare variants referred to variants with MAF≤1% in the datasets; 3: This category includes missense, stopgain, stoploss and splicing single nucleotide variants and insertions/deletions causing frameshift, nonframeshift, stoploss, stopgain and splicing differences; 4: Knowledge-related variants/genes refer to those variants' genes having PPI(s) or sharing pathway(s) with at least one known causal gene of FSP and those variants fell into gene(s) which were co-mentioned in the titles or abstracts of papers in the PubMed database.
创建时间:
2014-08-13



