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Table 1 ES filtering data obtained for the six consanguineous MMA probands

From: Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Proband ID

Number of homozygous candidate variants

Variants in NOS3 (NM_000603) and GUCY1A3 (NM_000856.5)

Filter 1

Filter 2

Filter 3

M030

8

6

3

0

M035

21

18

11

1 homozygous missense substitution in NOS3 (c.1942 T > C, p.C648R)

M038

35

29

13

1 homozygous missense substitution in GUCY1A3 (c.1778G > A, p.R593H)

M084

20

11

1

1 homozygous splice-site substitution in NOS3 (c.1502 + 1G > C)

M101

7

4

2

0

M116

11

11

4

0

  1. Filter 1: homozygous nonsense, stop-loss, canonical splice-sites, indel and missense variants, coverage ≥ 8X, Q Phred score ≥ 30, global Minor Allele Frequency (MAF) ≤ 1%
  2. Filter 2: MAF ≤ 1% in the ExAC ethnic subgroup fitting with the proband’s ethnicity
  3. Filter 3: exclusion of missense variants predicted as benign by > 1/3 in-silico software (or by ≥ ½ if prediction was available for two software only)
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Human Genomics

ISSN: 1479-7364