User profiles for J. F. McRae
Jeremy McRaeIllumina Inc. Verified email at illumina.com Cited by 8230 |
[PDF][PDF] Predicting splicing from primary sequence with deep learning
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 …
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 …
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
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 …
disorders 1 . However, genes known to be associated with developmental disorders account …
Predicting the clinical impact of human mutation with deep neural networks
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 …
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
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 …
in diagnostic yield can be made by systematically reanalyzing previously generated …
De novo mutations in regulatory elements in neurodevelopmental disorders
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 …
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
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …
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
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 …
contributing to these differences [5–9]. How such variation also affects odor experience …
Quantifying the contribution of recessive coding variation to developmental disorders
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 …
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
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 …
genotype to this variation has been assessed for relatively few compounds. We have identified a …