Fig. 1 | Genetics in Medicine

Fig. 1

From: Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Fig. 1

Genome sequencing (GS) versus exome sequencing (ES) detection. (a) Comparison of the number of de novo coding single-nucleotide variants (SNVs) and indels detected in exome-targeted regions by GS and ES. (b) Families with de novo variants in neurodevelopmental disorder (NDD) risk genes missed by ES. (c) Comparison of ES and GS coverage of variants in NR4A2, KIRREL3, and CIC in mother, father, and proband. (d) Mean coverage across all samples sequenced by both GS and ES across NR4A2 and KIRREL3. Arrows point to location of the two variants discovered by GS but missed in ES.

Back to article page