User profiles for Y. Farjoun

Yossi Farjoun

Broad Institute
Verified email at broadinstitute.org
Cited by 11023

[HTML][HTML] The mutational constraint spectrum quantified from variation in 141,456 humans

…, JA Kosmicki, RK Walters, K Tashman, Y Farjoun… - Nature, 2020 - nature.com
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 …

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

…, JA Kosmicki, RK Walters, K Tashman, Y Farjoun… - biorxiv, 2019 - biorxiv.org
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 …

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). …

Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases

…, CY Su, P Raina, CMT Greenwood, Y Farjoun… - Nature …, 2023 - nature.com
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, …

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

…, W Phu, MT Yohannes, Z Koenig, Y Farjoun… - BioRxiv, 2022 - biorxiv.org
… 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 …

A genomic mutational constraint map using variation in 76,156 human genomes

…, W Phu, R Grant, MT Yohannes, Z Koenig, Y Farjoun… - Nature, 2024 - nature.com
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 …

[HTML][HTML] Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

M Costello, M Fleharty, J Abreu, Y Farjoun, S Ferriera… - BMC genomics, 2018 - Springer
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 …

[HTML][HTML] Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

AA Regier, Y Farjoun, DE Larson… - Nature …, 2018 - nature.com
… 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 …

A synthetic-diploid benchmark for accurate variant-calling evaluation

H Li, JM Bloom, Y Farjoun, M Fleharty, L Gauthier… - Nature …, 2018 - nature.com
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 …

[HTML][HTML] Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

…, JA Kosmicki, RK Walters, K Tashman, Y Farjoun… - Nature, 2021 - nature.com
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 & …