Sequencing Results (IMAGE)
Caption
In the upper left-hand panel, sequencing results for mother, father and daughter are examined, based on multiple reads of a given site in the genome. Each parent is judged to be homozygous -- carrying two copies of the same base, (AA). Sequencing of the daughter identifies a heterozygous state at the same site (AC) indicating a de novo mutation, though the new software indicates a very low probability for a mutation at this site, suggesting a false positive result (upper right-hand panel). The lower left and right panels show a failure to identify a heterozygous site in the child, which results in a false negative (with the new method indicating a very high likelihood of mutation at this site).
Credit
National Center for Biotechnology Information
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