precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

Description

The precisionFDA Truth Challenge V2 aimed to assess the state-of-the-art of variant calling in difficult-to-map regions and the Major Histocompatibility Complex (MHC). Starting with FASTQ files, 20 challenge participants applied their variant calling pipelines and submitted 64 variant callsets for one or more sequencing technologies (~35X Illumina, ~35X PacBio HiFi, and ~50X Oxford Nanopore Technologies). Submissions were evaluated following best practices for benchmarking small variants with the new GIAB benchmark sets and genome stratifications. Challenge submissions included a number of innovative methods for all three technologies, with graph-based and machine-learning methods scoring best for short-read and long-read datasets, respectively. New methods out-performed the 2016 Truth Challenge winners, and new machine-learning approaches combining multiple sequencing technologies performed particularly well. Recent developments in sequencing and variant calling have enabled benchmarking variants in challenging genomic regions, paving the way for the identification of previously unknown clinically relevant variants. This dataset includes the fastq files provided to participants, the submitted variant callset as vcfs, and the benchmarking results, along with challenge submission metadata.

Resources

Name Format Description Link
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/0GOOR/0GOOR_HG004.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/2OT9Q/2OT9Q_HG004.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/9DGOR/9DGOR_HG003.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/NWQ6Y/NWQ6Y_HG002.extended.csv.sha256
19 61YRJ_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/61YRJ/61YRJ_HG004.vcf.gz
19 KPXT2_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KPXT2/KPXT2_HG004.vcf.gz
19 KXBR8_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KXBR8/KXBR8_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/S7K7S/S7K7S_HG003.extended.csv.sha256
19 UYMUW_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/UYMUW/UYMUW_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/R9CXN/R9CXN_HG004.vcf.gz.sha256
19 XC97E_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/XC97E/XC97E_HG004.vcf.gz
8 2OT9Q_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/2OT9Q/2OT9Q_HG003.extended.csv
8 BARQS_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/BARQS/BARQS_HG004.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/JBBK0/JBBK0_HG004.extended.csv.sha256
8 YBE9U_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/YBE9U/YBE9U_HG004.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/YJN61/YJN61_HG004.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002_GM24385_1_2_3_Guppy_3.6.0_prom.fastq.gz.sha256
8 LR1FD_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/LR1FD/LR1FD_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/8H0ZB/8H0ZB_HG003.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KPXT2/KPXT2_HG002.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/WGQ43/WGQ43_HG004.vcf.gz.sha256
8 9DGOR_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/9DGOR/9DGOR_HG003.extended.csv
8 R9CXN_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/R9CXN/R9CXN_HG003.extended.csv
8 C6JUX_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/C6JUX/C6JUX_HG004.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/J04SL/J04SL_HG002.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/KFA0T/KFA0T_HG003.extended.csv.sha256
8 KXBR8_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/KXBR8/KXBR8_HG002.extended.csv
8 MT57N_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/MT57N/MT57N_HG002.extended.csv
19 ASJT6_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/ASJT6/ASJT6_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KFA0T/KFA0T_HG004.vcf.gz.sha256
19 RU88N_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/RU88N/RU88N_HG004.vcf.gz
19 W91C1_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/W91C1/W91C1_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/32LOW/32LOW_HG004.extended.csv.sha256
8 23O09_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/23O09/23O09_HG004.extended.csv
8 NWQ6Y_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/NWQ6Y/NWQ6Y_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/NWQ6Y/NWQ6Y_HG003.extended.csv.sha256
8 NWQ6Y_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/NWQ6Y/NWQ6Y_HG004.extended.csv
8 PGXA4_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/PGXA4/PGXA4_HG002.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/PGXA4/PGXA4_HG002.extended.csv.sha256
8 PGXA4_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/PGXA4/PGXA4_HG004.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/PGXA4/PGXA4_HG004.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/QUE7Q/QUE7Q_HG002.extended.csv.sha256
8 ASJT6_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/ASJT6/ASJT6_HG003.extended.csv
8 B1S5A_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/B1S5A/B1S5A_HG002.extended.csv
8 VES2R_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/VES2R/VES2R_HG004.extended.csv
8 W607K_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/W607K/W607K_HG002.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/CZA1Y/CZA1Y_HG002.extended.csv.sha256
8 CZA1Y_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/CZA1Y/CZA1Y_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/CZA1Y/CZA1Y_HG004.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/EIUT6/EIUT6_HG002.extended.csv.sha256
8 EIUT6_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/EIUT6/EIUT6_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/EIUT6/EIUT6_HG003.extended.csv.sha256
8 W91C1_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/W91C1/W91C1_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/HF8CT/HF8CT_HG002.extended.csv.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/JIPSI/JIPSI_HG003.extended.csv.sha256
8 YUI27_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/YUI27/YUI27_HG004.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/YUI27/YUI27_HG004.extended.csv.sha256
19 HG002_GM24385_1_2_3_Guppy_3.6.0_prom.fastq.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002_GM24385_1_2_3_Guppy_3.6.0_prom.fastq.gz
19 HG002.novaseq.pcr-free.35x.R1.fastq.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002.novaseq.pcr-free.35x.R1.fastq.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002.novaseq.pcr-free.35x.R1.fastq.gz.sha256
19 HG002.novaseq.pcr-free.35x.R2.fastq.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002.novaseq.pcr-free.35x.R2.fastq.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002.novaseq.pcr-free.35x.R2.fastq.gz.sha256
19 HG002_35x_PacBio_14kb-15kb.fastq.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002_35x_PacBio_14kb-15kb.fastq.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG002_35x_PacBio_14kb-15kb.fastq.gz.sha256
19 HG003_GM24149_1_2_3_Guppy_3.6.0_prom.fastq.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG003_GM24149_1_2_3_Guppy_3.6.0_prom.fastq.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG003_GM24149_1_2_3_Guppy_3.6.0_prom.fastq.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/input_fastqs/HG003.novaseq.pcr-free.35x.R2.fastq.gz.sha256
19 4GKR1_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/4GKR1/4GKR1_HG002.vcf.gz
19 4GKR1_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/4GKR1/4GKR1_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/4GKR1/4GKR1_HG004.vcf.gz.sha256
19 23O09_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/23O09/23O09_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/23O09/23O09_HG003.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/23O09/23O09_HG004.vcf.gz.sha256
19 2OT9Q_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/2OT9Q/2OT9Q_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/2OT9Q/2OT9Q_HG002.vcf.gz.sha256
8 M9KLP_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/M9KLP/M9KLP_HG002.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/M9KLP/M9KLP_HG002.extended.csv.sha256
8 M9KLP_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/M9KLP/M9KLP_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/MECML/MECML_HG002.extended.csv.sha256
8 MECML_HG003.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/MECML/MECML_HG003.extended.csv
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/MECML/MECML_HG003.extended.csv.sha256
19 HF8CT_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/HF8CT/HF8CT_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/WGQ43/WGQ43_HG004.extended.csv.sha256
19 60Z59_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/60Z59/60Z59_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/7NJ5C/7NJ5C_HG004.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/ASJT6/ASJT6_HG003.vcf.gz.sha256
19 B1S5A_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/B1S5A/B1S5A_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/CN36L/CN36L_HG003.vcf.gz.sha256
19 CN36L_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/CN36L/CN36L_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/CN36L/CN36L_HG004.vcf.gz.sha256
19 CZA1Y_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/CZA1Y/CZA1Y_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/CZA1Y/CZA1Y_HG003.vcf.gz.sha256
19 EIUT6_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/EIUT6/EIUT6_HG002.vcf.gz
19 EIUT6_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/EIUT6/EIUT6_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/EIUT6/EIUT6_HG003.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/EIUT6/EIUT6_HG004.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/ISKOS/ISKOS_HG004.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/J04SL/J04SL_HG003.vcf.gz.sha256
19 J04SL_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/J04SL/J04SL_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/J04SL/J04SL_HG004.vcf.gz.sha256
19 W607K_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/W607K/W607K_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/K4GT3/K4GT3_HG004.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KPXT2/KPXT2_HG004.vcf.gz.sha256
19 KXBR8_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KXBR8/KXBR8_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KXBR8/KXBR8_HG002.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KXBR8/KXBR8_HG003.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/KXBR8/KXBR8_HG004.vcf.gz.sha256
19 LR1FD_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/LR1FD/LR1FD_HG002.vcf.gz
19 LR1FD_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/LR1FD/LR1FD_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/LR1FD/LR1FD_HG004.vcf.gz.sha256
19 M9KLP_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/M9KLP/M9KLP_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/M9KLP/M9KLP_HG002.vcf.gz.sha256
19 M9KLP_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/M9KLP/M9KLP_HG003.vcf.gz
19 M9KLP_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/M9KLP/M9KLP_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/R9CXN/R9CXN_HG003.vcf.gz.sha256
19 W607K_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/W607K/W607K_HG003.vcf.gz
19 Y8QR8_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/Y8QR8/Y8QR8_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YBE9U/YBE9U_HG003.vcf.gz.sha256
19 YBE9U_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YBE9U/YBE9U_HG004.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YBE9U/YBE9U_HG004.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YGOTK/YGOTK_HG002.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YGOTK/YGOTK_HG003.vcf.gz.sha256
19 YJN61_HG002.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YJN61/YJN61_HG002.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YJN61/YJN61_HG002.vcf.gz.sha256
19 YJN61_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YJN61/YJN61_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YJN61/YJN61_HG003.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YJN61/YJN61_HG004.vcf.gz.sha256
19 YUI27_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YUI27/YUI27_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YUI27/YUI27_HG003.vcf.gz.sha256
19 YUI27_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/YUI27/YUI27_HG004.vcf.gz
19 23O09_HG004.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/23O09/23O09_HG004.vcf.gz
8 WGQ43_HG004.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/WGQ43/WGQ43_HG004.extended.csv
8 XC97E_HG002.extended.csv https://data.nist.gov/od/ds/ark:/88434/mds2-2336/benchmarking_results/XC97E/XC97E_HG002.extended.csv
19 32LOW_HG003.vcf.gz https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/32LOW/32LOW_HG003.vcf.gz
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/EIUT6/EIUT6_HG002.vcf.gz.sha256
47 https://data.nist.gov/od/ds/ark:/88434/mds2-2336/submission_vcfs/TG5TE/TG5TE_HG002.vcf.gz.sha256
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Tags

  • benchmarking
  • whole-genome-sequencing
  • variant-calling
  • precisionfda
  • genome-in-a-bottle
  • bioinformatics

Topics

Categories