Whole-exome sequencing of a pedigree segregating asthma

BMC Medical Genetics

Table 7 De novo variants

					Mother		Father		Child 1		Child 2		Child 3		Child 4
Function	Gene	Exonic function	Chr²	Position	Gen³	Reads⁴	Gen³	Reads⁴	Gen³	Reads⁴	Gen³	Reads⁴	Gen³	Reads⁴	Gen³	Reads⁴
exonic	MEF2A	nonsyn¹	15	100252908	0/0	155,0	0/0	187,0	0/1	73,65	0/0	223,0	0/0	76,0	0/0	196,3
exonic	DST	nonsyn¹	6	56485113	0/0	221,0	0/0	333,1	0/0	248,0	0/0	326,0	0/0	145,0	0/1	168,122

¹Nonsynonymous.
²Chromosome.
³Genotype (0/0 = homozygous reference, 0/1 = heterozygous for the de novo variant, 1/1 = homozygous de novo).
⁴Number of reads covering the variant site with the first number being the number of reads containing the reference allele and the second the number of reads containing the de novo variant allele.

ISSN: 1471-2350