Ressources

Données

Blood Cell Consortium (BCX)

Sommaire de données d’association (voir readme_BCX2_meta_analyses.txt), résultats de fine-mapping (voir readme_BCX2_CS95_VEP.txt) et résultats d’enrichissement g-chromVar (voir readme_BCX2_gchromVAR_5Sept2019.txt) rapportés dans l’article suivant:

  • Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations, Cell 2020

MR-MEGA GWAMA
Trans-ethnic Trans-ethnic European East-Asian African Hispanics/Latinos
Red blood cells red blood cell count (RBC count) file file file file file file
hemoglobin concentration (HGB) file file file file file file
hematocrit (HCT) file file file file file file
mean corpuscular hemoglobin (MCH) file file file file file file
mean corpuscular volume (MCV) file file file file file file
mean corpuscular hemoglobin concentration (MCHC) file file file file file file
RBC distribution width (RDW) file file file N.A. file file
White blood cells total white blood cell count (WBC count) file file file file file file
neutrophil count (Neutro) file file file file file file
lymphocyte count (Lympho) file file file file file file
monocyte count (Mono) file file file file file file
basophil count (Baso) file file file file file file
eosinophil count (Eosin) file file file file file file
Platelets platelet count (PLT count) file file file file file file
mean platelet volume (MPV) file file file file file file
Fine-mapping results (95% credible sets) BCX2_CR95_VEP.zip
G-chromVar enrichment results CS.trans_all.PP01.strong_atac_overlap.tsv
CS.trans_subancestry.PP01.strong_atac_overlap.tsv

Données d’association sur l’ExomeChip rapportées dans l’articles suivant: (pour plus d’information, voir readme2.txt)

  • Rare coding variants pinpoint genes that control human hematological traits, PLoS Genet 2017
Red blood cellsred blood cell count (RBC count)meta_rare_rbc.txt.gz (3.3MB)
hemoglobin concentration (HGB)meta_rare_hgb.txt.gz (3.4MB)
hematocrit (HCT)meta_rare_hct.txt.gz (3.4MB)
mean corpuscular hemoglobin (MCH)meta_rare_mch.txt.gz (3.3MB)
mean corpuscular volume (MCV)meta_rare_mcv.txt.gz (3.3MB)
mean corpuscular hemoglobin concentration (MCHC)meta_rare_mchc.txt.gz (3.3MB)
RBC distribution width (RDW)meta_rare_rdw.txt.gz (3.3MB)
White blood cellstotal white blood cell count (WBC count)meta_rare_wbc.txt.gz (3.4MB)
neutrophil count (Neutro)meta_rare_neutro.txt.gz (3.4MB)
lymphocyte count (Lympho)meta_rare_lympho.txt.gz (3.3MB)
monocyte count (Mono)meta_rare_mono.txt.gz (3.3MB)
basophil count (Baso)meta_rare_bas.txt.gz (3.2MB)
eosinophil count (Eosin)meta_rare_eos.txt.gz (3.2MB)
Plateletsplatelet count (PLT count)meta_rare_plt.txt.gz (3.4MB)
mean platelet volume (MPV)meta_rare_mpv.txt.gz (3.2MB)

Données d’association sur l’ExomeChip rapportées dans les articles suivants: (pour plus d’information, voir readme.txt)

  • Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits, Am J Hum Genet. 2016 Jun 21
  • Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases, Am J Hum Genet. 2016 Jun 21
  • Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals, Am J Hum Genet. 2016 Jun 21

African ancestryEuropean ancestryAll ancestries
Red blood cellBCX_RBC_AA.tar.gz (56.1MB)BCX_RBC_EA.tar.gz (61.1MB)BCX_RBC_ALL.tar.gz (67.3MB)
White blood cellBCX_WBC_AA.tar.gz (43.4MB)BCX_WBC_EA.tar.gz (48.3MB)BCX_WBC_ALL.tar.gz (56.5MB)
PlateletBCX_PLT_AA.tar.gz (15.8MB)BCX_PLT_EA.tar.gz (17.3MB)BCX_PLT_ALL.tar.gz (19.1MB)

Logiciel

CRISPR Off-Target Tool

Ce script vise à trouver les régions hors-cibles dans les expériences CRISPR/Cas9 à partir d’une liste de guides ARN (sgRNAs).

Tableaux supplémentaires pour Lessard S, Francioli L, Alfoldi J, Tardif JC, Ellinor PT, MacArthur DG, Lettre G, Orkin SH, and Canver MC. Human genetic variation alters CRISPR/Cas9 on- and off-targeting specificity at therapeutically implicated loci [PNAS 2017]

  • Supplementary data. List of individual aggregate off-target scores for samples from the 1,000 Genomes Project and their local scores. CFD: cutting frequency determination.
  • Supplementary data. List of individual aggregate off-target scores for samples from the French Canadian dataset and their local scores. CFD: cutting frequency determination.

KnockoutQT

Ce script (knockoutQT.rb) vise à trouver des « knock-outs » (KOs) de gènes et à tester leurs associations avec un phénotype quantitative donné.

[Documentation]  [Ruby script]  [R script]