Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17
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DOI: 10.1002/humu.24469
Abstract: Next‐generation sequencing (NGS) is a valuable tool, but has limitations in sequencing through repetitive runs of single nucleotides (homopolymers). Pathogenic germline variants in WRAP53 encoding telomere Cajal body protein 1 (TCAB1) are a known cause… read more here.
Keywords: chr17 606; sequencing errors; next generation; wrap53 encoding ... See more keywords