User profiles for Y. Farjoun
Yossi FarjounBroad Institute Verified email at broadinstitute.org Cited by 11023 |
[HTML][HTML] The mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …
about the phenotypic consequences of gene disruption: genes that are crucial for the function …
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …
about the phenotypic consequences of gene disruption: genes critical for an organism’s …
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
…, DA Douglas, R Duggirala, Z Dymek, Y Farjoun… - Nature …, 2014 - nature.com
Loss-of-function mutations protective against human disease provide in vivo validation of
therapeutic targets 1 , 2 , 3 , but none have yet been described for type 2 diabetes (T2D). …
therapeutic targets 1 , 2 , 3 , but none have yet been described for type 2 diabetes (T2D). …
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Metabolic processes can influence disease risk and provide therapeutic targets. By conducting
genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, …
genome-wide association studies of 1,091 blood metabolites and 309 metabolite ratios, …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
… and context in 76,156 gnomAD genomes (y-axis) is exponentially correlated with the … -axis)
on the mutation rate of 32 trinucleotide contexts (y-axis) are shown, colored by the coefficient …
on the mutation rate of 32 trinucleotide contexts (y-axis) are shown, colored by the coefficient …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders 1 , 2 , 3 – 4 …
been widely used to investigate protein-coding genes underlying human disorders 1 , 2 , 3 – 4 …
[HTML][HTML] Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms
Background Here we present an in-depth characterization of the mechanism of sequencer-induced
sample contamination due to the phenomenon of index swapping that impacts …
sample contamination due to the phenomenon of index swapping that impacts …
[HTML][HTML] Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
… r1140) with the parameters “-K 100000000 -p -Y”. MC and MQ tags are added using
samblaster (v0.1.24) with the parameters “-a --addMateTags”. Read group BAM files are merged …
samblaster (v0.1.24) with the parameters “-a --addMateTags”. Read group BAM files are merged …
A synthetic-diploid benchmark for accurate variant-calling evaluation
Existing benchmark datasets for use in evaluating variant-calling accuracy are constructed
from a consensus of known short-variant callers, and they are thus biased toward easy …
from a consensus of known short-variant callers, and they are thus biased toward easy …
[HTML][HTML] Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
In this Article, author Marquis P. Vawter was missing from the Genome Aggregation
Database Consortium list. They are associated with the affiliation:‘Department of Psychiatry & …
Database Consortium list. They are associated with the affiliation:‘Department of Psychiatry & …