Fig. 1 | Human Genome Variation

Fig. 1

From: High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report

Fig. 1

a Sanger sequencing was performed using the BigDye Terminator v3.1 Cycle Sequencing kit (Applied Biosystems, Thermo Fisher Scientific Inc.), and the sequencing results were analyzed using SeqScape software version 2.5 (Applied Biosystems, Thermo Fisher Scientific Inc.). The primers used for BRCA2 exon 2 amplification and sequencing were as follows: forward (F) 5′-AGGAATATCGTAGGTAAAAATG-3′ and reverse (R) 5′-CTGGATTTATACACACATAAGG-3′. Because of the low allele frequency (16%), the presence of the c.18_28delAGAGAGGCCAA variant gives a sequencing signal that is indistinguishable from background noise. b The results of the patient’s genome obtained by NGS of the BRCA genes are reported; the c.18_28delAGAGAGGCCAA variant is highlighted (blue). Variant calling and the sequencing depth and quality were obtained using Amplicon Suite software (SmartSeq s.r.l., Novara, Italy), as highlighted by the arrow. c An extract of the total sequences carrying the c.18_28delAGAGAGGCCAA allele is shown (the deletion is indicated by the dotted line). The different colors (blue and gray) show the direction of sequencing (paired-end sequencing)

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