Declarations

Acknowledgements

We offer heartfelt gratitude to all DGAP research participants and their families, and to countless genetic counselors, clinical geneticists, cytogeneticists, and physicians for their ongoing support of our study and for referrals to our project. This study was funded by the National Institutes of Health (GM061354 to CCM and MET). The authors declare no conflicts of interest.

Web Resources

The scripts used in this study to predict position effects can be downloaded from: https://github.com/ibn-salem/position_effect

OMIM, http://www.omim.org

Ensembl GRCh37 archive, http://grch37.ensembl.org

Human lincRNAs catalog, http://portals.broadinstitute.org/genome_bio/human_lincrnas

Haploinsufficiency scores, https://decipher.sanger.ac.uk

ClinGen GRCh37 data, ftp://ftp.ncbi.nlm.nih.gov/pub/dbVar/clingen

University of California Santa Cruz Genome Browser, https://genome.ucsc.edu

Human Phenotype Ontology, http://human-phenotype-ontology.github.io

Harvard Biopolymers Facility, https://genome.med.harvard.edu

dbVar Variation Viewer, https://www.ncbi.nlm.nih.gov/variation/view

3D Genome Browser, http://promoter.bx.psu.edu/hi-c

ENCODE, https://www.encodeproject.org

WashU EpiGenome Browser, http://epigenomegateway.wustl.edu/

GTEx portal, https://www.gtexportal.org/home