Integrative annotation of variants from 1092 humans: application to cancer genomics
Introduction Plummeting sequencing costs have led to a great increase in the number of
personal genomes. Interpreting the large number of variants in them, particularly in noncoding …
personal genomes. Interpreting the large number of variants in them, particularly in noncoding …
Interactome INSIDER: a structural interactome browser for genomic studies
We present Interactome INSIDER, a tool to link genomic variant information with structural
protein–protein interactomes. Underlying this tool is the application of machine learning to …
protein–protein interactomes. Underlying this tool is the application of machine learning to …
[PDF][PDF] A proteome-wide fission yeast interactome reveals network evolution principles from yeasts to human
…, N Akturk, X Wei, BJ Fair, AG Degatano, R Fragoza… - Cell, 2016 - cell.com
Here, we present FissionNet, a proteome-wide binary protein interactome for S. pombe,
comprising 2,278 high-quality interactions, of which ∼50% were previously not reported in any …
comprising 2,278 high-quality interactions, of which ∼50% were previously not reported in any …
[HTML][HTML] SAAMBE-3D: predicting effect of mutations on protein–protein interactions
Maintaining wild type protein–protein interactions is essential for the normal function of cell
and any mutation that alter their characteristics can cause disease. Therefore, the ability to …
and any mutation that alter their characteristics can cause disease. Therefore, the ability to …
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Identifying disease-associated missense mutations remains a challenge, especially in large-scale
sequencing studies. Here we establish an experimentally and computationally …
sequencing studies. Here we establish an experimentally and computationally …
[HTML][HTML] Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
Each human genome carries tens of thousands of coding variants. The extent to which this
variation is functional and the mechanisms by which they exert their influence remains largely …
variation is functional and the mechanisms by which they exert their influence remains largely …
[HTML][HTML] A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations
Understanding the functional relevance of DNA variants is essential for all exome and genome
sequencing projects. However, current mutagenesis cloning protocols require Sanger …
sequencing projects. However, current mutagenesis cloning protocols require Sanger …
[HTML][HTML] Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging
P Singh, R Fragoza, CS Blengini, TN Tran… - Nature …, 2021 - nature.com
Embryonic aneuploidy from mis-segregation of chromosomes during meiosis causes
pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (…
pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (…
SAAMBE-SEQ: a sequence-based method for predicting mutation effect on protein–protein binding affinity
Motivation Vast majority of human genetic disorders are associated with mutations that affect
protein–protein interactions by altering wild-type binding affinity. Therefore, it is extremely …
protein–protein interactions by altering wild-type binding affinity. Therefore, it is extremely …
Exploring mechanisms of human disease through structurally resolved protein interactome networks
The study of the molecular basis of human disease has gained increasing attention over the
past decade. With significant improvements in sequencing efficiency and throughput, a …
past decade. With significant improvements in sequencing efficiency and throughput, a …