Mutation mapping and identification by whole-genome sequencing

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Figure 3.
Figure 3.

Mapping of ca1. (A) Homozygosity scoring reveals a single peak on chromosome 3. (B) Log likelihood analysis (red line) returns a ∼7-Mb interval for the presumptive mutation, while the homozygosity score (green graph) misses the mutation region due to very low SNP frequency in some areas of the interval. (C) Sequencing of exon 6 of the flr gene reveals a premature stop codon.

This Article

  1. Published in Advance May 3, 2012, doi: 10.1101/gr.135541.111 Genome Res. 22: 1541-1548

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