Functional analysis of a novel FOXL2 indel
mutation in Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome type I.
Turajlic reported patents pending for an indel
biomarker (PCT/GB2018/051893) and an indel
All patients and controls were tested for the presence of small indel
mutations and rearrangements.
TMB is the number of somatic, coding, base substitution, and indel
mutations per megabase of the genome tested (3).
Of the 36 SNPs of MITF identified in our previous study , only three synonymous SNPs located in exon 1 and 3 and one indel
, which harbor restriction sites, were considered for SNP genotyping in the present study.
The bioinformatic pipeline developed and implemented at UPHL consists of 8 steps (Figure): 1) read quality control, 2) reference strain determination, 3) read mapping to the reference strain, 4) single-nucleotide polymorphism (SNP) and small insertion or deletion (indel
) detection, 5) de novo genome assembly, 6) genome annotation, 7) phylogenetic tree construction, and 8) phylogenetic analysis.
The aim of this study was to investigate the insertion/deletion (indel
) mutations of the POU domain class 1 transcription factor 1 (POU1F1), the follicle-stimulating hormone b-subunit (FSHb), and themucin 13 (MUC13) genes, as well as to evaluate their associations with testis measurement traits in male piglets.
Comparison between the reference data set and the NGS panel data showed 1 false-positive SNV call and 1 false-positive indel
in the panel data set.
Fifty-seven different mutations (40 missense, 8 nonsense, 7 frameshift, 1 in-frame deletion, and one splice site) in GCK, 15 different mutations (11 missense, 3 frameshift, and one 3' UTR) in HNF1A and 4 different mutations (2 missense, one frameshift, and one indel
) in HNF1B were found.
The major disadvantage is the difficulty of interpreting the homopolymer sequences (more than 6 bp) [21,36] which causes insertion and deletion (indel
) error with a rate about ~1%.
Each sgRNA might generate three types of insertion or deletion (InDel
) mutations, 3n, 3n+1, and 3n+2.