User profiles for K. Farh
Kyle Kai-How FarhPrincipal Investigator, Illumina AI Lab Verified email at illumina.com Cited by 46764 |
Analysis of shared heritability in common disorders of the brain
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
[HTML][HTML] Integrative analysis of 111 reference human epigenomes
The reference human genome sequence set the stage for studies of genetic variation and
its association with human disease, but epigenomic studies lack a similar reference. To …
its association with human disease, but epigenomic studies lack a similar reference. To …
[PDF][PDF] MicroRNA targeting specificity in mammals: determinants beyond seed pairing
Mammalian microRNAs (miRNAs) pair to 3′UTRs of mRNAs to direct their posttranscriptional
repression. Important for target recognition are ∼7 nt sites that match the seed region of …
repression. Important for target recognition are ∼7 nt sites that match the seed region of …
Most mammalian mRNAs are conserved targets of microRNAs
RC Friedman, KKH Farh, CB Burge… - Genome research, 2009 - genome.cshlp.org
… First, we matched control k-mers using an expected conservation based on both the k-mer’s
GC content and the expected conservation of its constituent dinucleotides, which enabled a …
GC content and the expected conservation of its constituent dinucleotides, which enabled a …
Partitioning heritability by functional annotation using genome-wide association summary statistics
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
The widespread impact of mammalian MicroRNAs on mRNA repression and evolution
Thousands of mammalian messenger RNAs are under selective pressure to maintain 7-nucleotide
sites matching microRNAs (miRNAs). We found that these conserved targets are …
sites matching microRNAs (miRNAs). We found that these conserved targets are …
Genetic and epigenetic fine mapping of causal autoimmune disease variants
Genome-wide association studies have identified loci underlying human diseases, but the
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …
causal nucleotide changes and mechanisms remain largely unknown. Here we developed a …
[PDF][PDF] Modeling linkage disequilibrium increases accuracy of polygenic risk scores
…, BM Neale, A Corvin, JTR Walters, KH Farh… - The american journal of …, 2015 - cell.com
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …
become more accurate as training sample sizes increase. The standard approach for …
[PDF][PDF] Predicting splicing from primary sequence with deep learning
… Top-k accuracy is the fraction of correctly predicted splice sites … We also show the top-k
accuracy and PR-AUC for three … in k GTEx individuals, we picked a random subset of k GTEx …
accuracy and PR-AUC for three … in k GTEx individuals, we picked a random subset of k GTEx …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
…, V Escott-Price, L Essioux, AH Fanous, KH Farh… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …