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Model construction: information acquisition

SG Sahar Gelfman
QW Quanli Wang
KM K. Melodi McSweeney
ZR Zhong Ren
FC Francesca La Carpia
MH Matt Halvorsen
KS Kelly Schoch
FR Fanni Ratzon
EH Erin L. Heinzen
MB Michael J. Boland
SP Slavé Petrovski
DG David B. Goldstein
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Each variant is first identified within the Genome Reference Consortium Human Genome build 37. Next, the following annotations are gathered: (a) All the transcripts that the variant resides in, or all the transcripts in the nearest gene, if gene ids are not provided. (b) All the exon/intron coordinates in which the variant resides, and (c) distances from both splice sites in each case (Supplementary Data 1).

The GERP++ Rejected Substitutions score is added as a measure of evolutionary conservation15. The GERP++ score measures evolutionary constraints acting on a specific coordinate and is the only external score not calculated by TraP.

Copyright and License information: The Author(s) ©2017
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