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Fig. 2 | Human Genomics

Fig. 2

From: Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

Fig. 2

Results of the validation of novel COL1A1 mutation. a The Integrated Genomics Viewer image corresponding to COL1A1 exon 33–34 de novo variant c.2317G > T (GGC > TGC on „ + “strand). Genomic coordinates are given according to GRCh37/hg19 reference sequence. b Validation of the c.2317G > T by Sanger sequencing. Electropherograms of the index patient (716), her mother (711), father (710). Over 10 Gb of sequence was generated from each individual, resulting in a coverage depth of 84× for both parents and 87× for an affected child, and an unaffected brother (715) is shown. C (cytosine) is blue, T (thymine) is red, G (guanine) is black. The position of the heterozygous c.2317G > T mutation is marked by an arrow. The mutation is absent in both parents, confirming its de novo occurrence in the proband

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Human Genomics

ISSN: 1479-7364