Genome in a Bottle
@GenomeInABottle
Followers
3K
Following
919
Media
15
Statuses
646
The Genome in a Bottle Consortium develops reference materials, reference data, and reference methods needed to benchmark human genome sequencing
Joined August 2012
Our v4.2.1 small variant benchmarks using long and linked reads for 7 @GenomeInABottle samples, and their use in the @precisionfda Truth Challenge, now published in @CellGenomics. Thanks to the many contributors to these 2 papers!
0
11
27
RT @acarroll_ATG: Nice to see the impact of this important work. This benchmark set (v4.2.1) drove a huge amount of improvement sequencing.….
0
5
0
Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at based on extensive short+long read sequencing data described in Feedback to improve future versions is very welcome!.
0
16
29
RT @GenomeBrowser: We are pleased to announce the release of the Genome in a Bottle (@GenomeInABottle) Problematic Regions tracks for the h….
0
13
0
RT @brent_p: don't use hg38.fa as-is. checkout the references 😜 here: rendered the ipynb (not mine) here: https://t….
0
16
0
RT @acarroll_ATG: We realized they could be mosaic variant positions. Fortunately, NIST @GenomeInABottle released a set of annotated mosai….
0
2
0
RT @SinaMajidian: The @GenomeInABottle genomic stratifications resource is published in @NatureComms: Stratificatio….
0
11
0
An interesting new method to use interpretable machine learning with GIAB benchmarks to understand how variant calling errors are correlated with different types of genomic repeats
0
7
22
RT @markrobinsonca: Interested in benchmarking computational methods in computational biology, generally?. Save the date, submit an abstrac….
0
37
0
Extensive WGS for 1st @NIST GIAB tumor cell line, consented for public genomic data PDAC tumor/normal pair with data from @nanopore @PacBio's HiFI&Onso @illumina @ElemBio @UltimaGenomics @bioskryb @ArimaGenomics @PhaseGenomics @bionano @KromatidInc.
1
29
68
RT @RobAboukhalil: 📢 By popular demand, you can now add tracks to IGV Desktop directly from 42basepairs!
0
3
0
RT @sedlazeck: Tandem repeat @GenomeInABottle benchmark @NatureBiotech out today: . Characterization of 1.7 million….
0
53
0
RT @khmiga: Want to learn more about the tricks and tips for generating ONT Ultra-long DNA? The T2T Consortium and UCSC SeqTech Center are….
0
60
0
RT @marianattestad: SplitThreader, my cancer SV viz tool, is 8 years old. I have some ideas for giving it a makeover that would make it muc….
0
8
0
RT @sedlazeck: Our 10th LR seminar @BCM_HGSC at 22nd March 10am CT! .Come join us and listen to new advancements on LR from @mitenjain @t….
0
20
0
RT @chrisamiller: Two other resources of note for IGV:. - Interactive guide to getting started with IGV: . - The su….
0
11
0
RT @lh3lh3: Preprint on Exploring gene content with pangenome gene graphs: It describes pangene for building gene….
0
89
0
RT @mike_schatz: Thank you Director Green! BioDIGS has truly been a highlight of my career. It starts with collecting soil from all over th….
0
8
0
RT @T1MD1: New vcfdist paper on bioRxiv!. Key Takeaways:.1) Jointly evaluating small and structural variants decreases measured FN+FP by 20….
0
4
0
RT @GenomeBrowser: We are proud to announce a new hg38 track group consisting of @HumanPangenome data. In this first release, there are tra….
0
60
0
0
1
0