The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity

<table>Setting for our study. (a) Alternative (<svg height="11.4625" id="M2" style="vertical-align:-0.0pt" version="1.1" viewbox="0 0 12.5875 11.4625" width="12.5875" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.4)"><path d="M716 28l-8 -28h-254l8 28q55 5 66 17.5t5 47.5l-30 145h-232l-74 -138q-21 -43 -11 -54.5t72 -17.5l-6 -28h-235l8 28q53 7 73.5 21t53.5 70l319 540l33 8q6 -43 33 -176l80 -381q10 -49 26.5 -63t72.5 -19zM495 281l-49 264h-2l-149 -264h200z" id="x1D434"></path></g>
</svg>) allele and reference (<svg height="11.3125" id="M3" style="vertical-align:-0.1092pt" version="1.1" viewbox="0 0 11.075 11.3125" width="11.075" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink">
<g transform="matrix(.017,-0,0,-.017,.062,11.113)"><path d="M627 18l-10 -26q-79 6 -116 27t-69 76q-41 71 -71 138q-13 29 -27.5 39t-42.5 10h-46l-27 -145q-13 -74 -2.5 -88.5t78.5 -20.5l-6 -28h-271l5 28q66 6 82.5 21.5t30.5 87.5l71 387q12 66 2 78.5t-77 19.5l8 28h233q102 0 147 -29q65 -43 65 -129q0 -69 -45.5 -117
t-115.5 -72q40 -86 66 -133q39 -68 65 -101q28 -37 73 -51zM491 483q0 67 -33.5 101t-91.5 34q-35 0 -51 -10q-13 -8 -20 -48l-45 -245h49q71 0 113 28q79 52 79 140z" id="x1D445"></path></g>
</svg>) allele. (b) Stringent filtering for affected individuals. (c) Filtering incorporating phenocopy. (d) Filtering incorporating incomplete penetrance and phenocopy. (e) Case of unrelated individual. (f) Case of full-sibs. </table>

Computational and Mathematical Methods in Medicine

fig1

Figure 1

Figure 1: The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity 