Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. Document date: 2018_12_13
ID: j5jrpbst_25
Snippet: PRTG and TNC were also highly ranked in the 1% MAF analysis, with one additional count for each transcript. Variants for all six genes are listed in Table 1 . In our analysis of just individuals of European ancestry, MACF1 was the most significantly enriched gene using a 0.5% MAF. The p-values indicated in Table 1 are for individual tests; there were no p-values significant after correction for multiple testing......
Document: PRTG and TNC were also highly ranked in the 1% MAF analysis, with one additional count for each transcript. Variants for all six genes are listed in Table 1 . In our analysis of just individuals of European ancestry, MACF1 was the most significantly enriched gene using a 0.5% MAF. The p-values indicated in Table 1 are for individual tests; there were no p-values significant after correction for multiple testing.
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