Table 4 |
|
|
Exome sequencing and filtering strategy in LAT1180¶ |
|
|
Total variants identified |
70,812 |
|
Total coding variants identified |
26,065 |
|
Total dbSNP132 variants |
63,728 |
|
Total changes not present in dbSNP132 database |
7,084 |
|
Coding changes |
4,351 |
|
Homozygous missense changes |
62 |
|
Homozygous missense changes not present in 1000 Genomes data |
36 |
|
Homozygous missense changes on chromosomes 1, 4, 7, 13, 15, 18 |
18 |
|
Homozygous missense changes within absence-of-heterozygosity |
4 |
|
|
|
|
¶An autosomal recessive inheritance model was assumed. |
|
|
Tariq et al. Genome Biology 2011 12:R91 doi:10.1186/gb-2011-12-9-r91 |
|
