Rare variant test set.
2017-11-21T18:41:57Z (GMT) by
<p>Variant sets were anchored on Transcription Start Sites (TSS) as defined by protein coding gene transcripts with validated RefSeq records. If a gene had multiple TSS, the 5'-most and 3'-most TSS were used as anchors. Accordingly, variants overlapping ARE within 200Kb of a TSS were pooled into a test set.</p>