Hilary Martin
@hilarycmartin.bsky.social
Group Leader in Human Genetics, Wellcome Sanger Institute
Finally, importantly, we replicate (in aggregate) the new genes showing rare variant associations with FI in independent cohorts with direct measures of cognitive ability (ALSPAC, MCS) & show that the ones not previously linked with NDDs are enriched ~2.5-fold for de novo PTVs in 31k NDD patients.
June 21, 2025 at 9:18 AM
Finally, importantly, we replicate (in aggregate) the new genes showing rare variant associations with FI in independent cohorts with direct measures of cognitive ability (ALSPAC, MCS) & show that the ones not previously linked with NDDs are enriched ~2.5-fold for de novo PTVs in 31k NDD patients.
We show that using measured+imputed FI gives more power in rare variant tests than using educational attainment (EA) on the same sample (26 versus 9 signif genes). (cont)
June 21, 2025 at 9:09 AM
We show that using measured+imputed FI gives more power in rare variant tests than using educational attainment (EA) on the same sample (26 versus 9 signif genes). (cont)
Looking forward to attending #GeneForum2025 in Tartu, Estonia Sept 9-10 and learning more about @estbiobank.bsky.social. Thanks @kauralasoo.bsky.social for the invitation!
May 9, 2025 at 6:09 AM
Looking forward to attending #GeneForum2025 in Tartu, Estonia Sept 9-10 and learning more about @estbiobank.bsky.social. Thanks @kauralasoo.bsky.social for the invitation!