User profiles for J. F. McRae

Jeremy McRae

Illumina Inc.
Verified email at illumina.com
Cited by 8230

[PDF][PDF] Predicting splicing from primary sequence with deep learning

K Jaganathan, SK Panagiotopoulou, JF McRae… - Cell, 2019 - cell.com
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …

[HTML][HTML] Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

…, TW Fitzgerald, WD Jones, S Clayton, JF McRae… - The Lancet, 2015 - thelancet.com
Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical practice …

Evidence for 28 genetic disorders discovered by combining healthcare and research data

…, G Gallone, SH Lelieveld, HC Martin, JF McRae… - Nature, 2020 - nature.com
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

Predicting the clinical impact of human mutation with deep neural networks

L Sundaram, H Gao, SR Padigepati, JF McRae, Y Li… - Nature …, 2018 - nature.com
Millions of human genomes and exomes have been sequenced, but their clinical applications
remain limited due to the difficulty of distinguishing disease-causing mutations from …

[HTML][HTML] Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

CF Wright, JF McRae, S Clayton, G Gallone, S Aitken… - Genetics in …, 2018 - Elsevier
Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements
in diagnostic yield can be made by systematically reanalyzing previously generated …

De novo mutations in regulatory elements in neurodevelopmental disorders

PJ Short, JF McRae, G Gallone, A Sifrim, H Won… - Nature, 2018 - nature.com
We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory …

[PDF][PDF] Histone lysine methylases and demethylases in the landscape of human developmental disorders

…, C van Karnebeek, JM Friedman, JF McRae… - The American Journal of …, 2018 - cell.com
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

[PDF][PDF] A Mendelian trait for olfactory sensitivity affects odor experience and food selection

SR Jaeger, JF McRae, CM Bava, MK Beresford… - Current Biology, 2013 - cell.com
Humans vary in acuity to many odors [1–4], with variation within olfactory receptor (OR) genes
contributing to these differences [5–9]. How such variation also affects odor experience …

Quantifying the contribution of recessive coding variation to developmental disorders

…, J Handsaker, G Gallone, M Bruntraeger, JF McRae… - Science, 2018 - science.org
We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

Genetic Variation in the Odorant Receptor OR2J3 Is Associated with the Ability to Detect the “Grassy” Smelling Odor, cis-3-hexen-1-ol

JF McRae, JD Mainland, SR Jaeger… - Chemical …, 2012 - academic.oup.com
The ability to detect many odors varies among individuals; however, the contribution of
genotype to this variation has been assessed for relatively few compounds. We have identified a …