Appendix 1—table 2. Data sources by ascertainment.

Ascertainment	Type	Study
Developmental disorders	DNMs	DDD; Kaplanis et al., 2020
Congenital heart disease	DNMs	Jin et al., 2017
Autism	DNMs	ASC and SSC whole-exome sequencing; Satterstrom et al., 2020
Autism (with unaffected sibling)	DNMs	SSC whole-genome sequencing; An et al., 2018
Autism	DNMs	SPARK; Feliciano et al., 2019
Autism	DNMs	MSSNG; C Yuen et al., 2017
Autism	Rare variants	Satterstrom et al., 2020 (https://asc.broadinstitute.org/results)
Schizophrenia	DNMs	Fromer et al., 2014; Howrigan et al., 2020; Rees et al., 2020
Schizophrenia	Rare variants	Singh et al., 2022 (https://schema.broadinstitute.org/)
Epilepsy	DNMs	EuroEPINOMICS-RES Consortium et al., 2014; Hamdan et al., 2017
Epilepsy	Rare variants	Feng et al., 2019 (https://epi25.broadinstitute.org/)
Tourette’s syndrome/OCD	DNMs	Cappi et al., 2020; Willsey et al., 2017
Bipolar disorder	Rare variants	Palmer et al., 2022, (https://bipex.broadinstitute.org/results)
Unknown	Segregating variants	Szustakowski et al., 2020 UK Biobank Whole-exome sequences (https://biobank.ndph.ox.ac.uk/ukb/label.cgi?id=170)
Unknown	DNMs	Goldmann et al., 2016
Unknown	DNMs	Unaffected siblings in An et al., 2018
Unknown	Mutations in spermatogonial stem cells	Moore et al., 2021
Mixed	DNMs	Halldorsson et al., 2019; Jónsson et al., 2017; (the 2017 study contains DNMs on the X chromosome)