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. 2015 Oct 28;202(1):351–362. doi: 10.1534/genetics.115.183483

Table 3. Deletions in the trio samples that are associated with disease susceptibility and drug response.

Chromosome Start Stop NA12878 NA12891 NA12892 Gene(s) Gene description Disease susceptibility
1 109687501 109714725 del/+ del/del del/+ GSTM1 Glutathione S-transferase Mu‐1 Reduced ability to metabolize certain chemical carcinogens and toxins, increasing susceptibility to various cancers and to aplastic anemia
1 152570855 152621659 del/+ del/del +/+ LCE3B, LCE3C Late cornified envelope 3B, C Increased susceptibility to psoriasis
1 207535283 207565105 del/+ del/del del/+ CR1 Complement component receptor 1 Malarial resistance; determinant of Knops system blood group
19 51628937 51649902 del/+ del/del +/+ SIGLEC14 Sialic acid binding Ig-like lectin 14 Increased susceptibility to group B Streptococcus