OQ4PNK4RQDMBMHPAIIBL3ZPQSQOPYKQSARJ46WRI6IRZNXABEQYAC
VZ5Z6PVL7H7RDOQKH27QW25D447LDONCQR3BFFMMGDU6PRXXNRUQC
FXA3ZBV64FML7W47IPHTAJFJHN3J3XHVHFVNYED47XFSBIGMBKRQC
3WBY7ELOD4XA65WEV3UCLE6VUAGGF4T27WUYXN75QAOSYRPFEEMAC
2PCPZD3BFBJXDOFKKSKVSPM7XZ7RQJQ3D7V7XD2C3ROEL5KDIICAC
YWWEIWM4CNSJTZE2FPFYBB3OMQOP62BKPL5PXEDUL5M3KLNRJQ3QC
La version 4 ajoute 273 gènes "clinically relevant" https://www.biorxiv.org/content/10.1101/2021.06.07.444885v3.full.pdf Ajout des zones "difficiles" https://www.biorxiv.org/content/10.1101/2020.07.24.212712v5.full.pdf
La version 4 ajoute 273 gènes "clinically relevant" https://www.biorxiv.org/content/10.1101/2021.06.07.444885v3.full.pdf
Ajout des zones "difficiles"
https://www.biorxiv.org/content/10.1101/2020.07.24.212712v5.full.pdf
*** TODO NA12878
*** TODO hap.pyhttps://github.com/Illumina/hap.py
*** TODO hap.py
https://github.com/Illumina/hap.py
** TODO Validation : NA12878https://github.com/ga4gh/benchmarking-toolsPrérequis :- [[*hap.py][hap.py]]- [[*NA12878][NA12878]]$ ${HAPPY}/bin/hap.py \ example/happy/PG_NA12878_chr21.vcf.gz \ example/happy/NA12878_chr21.vcf.gz \ -f example/happy/PG_Conf_chr21.bed.gz \ -o test
** TODO Validation : NA12878
https://github.com/ga4gh/benchmarking-tools
Prérequis :
- [[*hap.py][hap.py]]
- [[*NA12878][NA12878]]
$ ${HAPPY}/bin/hap.py \
example/happy/PG_NA12878_chr21.vcf.gz \
example/happy/NA12878_chr21.vcf.gz \
-f example/happy/PG_Conf_chr21.bed.gz \
-o test