Gareth Highnam

Othram CEO David Mittelman and @RazibKhan discuss how forensic genetic genealogy is a lever for criminal justice. Tons more cases solved in a fraction of the time, for a fraction of the cost: ∴ More answers for victims and families, faster. #dnasolves razibkhan.com/p/david-mittel…

A great look into this piece of the lab attack surface: destroying DNA sequencers open.substack.com/pub/aseq/p/des…

We are going to use @GenRait_Inc for a lot of the same things

@AlbertVilella @ElemBio What is the coverage when referring to a genome ? 30x?

In #NextGenerationSequencing news, more details of the new $200/genome pricing of Element Bio @ElemBio AVITI instruments and reagents. at 100 flowcells per quarter, it's a 2xAVITI system and $460/genome, and at 230+ flowcells/quarter, it's $200/genome with 3-5 AVITI systems.

@krsahlin Ask @FamilyTreeDNA to put bioplanet.com/GCAT back online. I worked on it as part of my PhD, they bought it along with some other tools, then shut down only that part LOL. It was a complete answer to this need

We should arrange a long and short read benchmarking system that one can submit aligners to and receive scores on different datasets and scenarios. It would greatly speed up progress in the area as well over 50% of project time is spent on benchmarking. Any funds for this? (1/2)

@westr @statnews Thankfully

Biden’s high-stakes biomedical science agency #ARPA-H will be part of the NIH — but there’s a twist … statnews.com/2022/03/31/arp… via @statnews .. Instead of reporting to the NIH director, the new agency’s leader will report directly to the secretary of HHS.

A database specifically targeted at crime solving and victim identification from @othram - dnasolves.com

@lassefolkersen is there a way I can see which of your drug response tests use the Z-score? ( on impute.me)

Suprise, genomics folks! $ILMN is buying $PACB for $1.2 billion. I spoke to CEO Francis deSouza about why. #6651b8da7c78" target="_blank" rel="nofollow noopener">forbes.com/sites/matthewh…

Want to work with Y chromosome data? Infer haplogroups in a snap with SNAPPY: biorxiv.org/content/early/… work jointly led by Alissa Severson from the Rosenberg lab and Jonathan Shortt from my group

i think the figure also wins the popularity contest

A universal SNP and small-indel variant caller using deep neural networks nature.com/articles/nbt.4… #GoogleThatVariant

Sentieon v GATK

Genetic genealogy isn't just for cold cases anymore. Technique was just used to solve a rape committed this April (thread) technologyreview.com/the-download/6…

for human readability it's actually kinda neat, can't wait til it supports bitmoji twitter.com/strnr/status/1…

Our paper just out in Nature Methods describes work led by @lh3lh3 to create a powerful new resource for validating variant-calling methods (thread): nature.com/articles/s4159…

The Strelka2 manuscript has just been published - nature.com/articles/s4159… Strelka2 performs very well in our benchmarks (usually outperforms GATK for accuracy and always outperforms on speed) in a diverse set of genomes and exomes. Great work and open-source contribution.

Accurate genotyping across variant classes and lengths using variant graphs nature.com/articles/s4158…

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Schumacher et al.) go.nature.com/2sZWkCO

$ bedtools intersect -header -a your_VCF.vcf -b exome_regions.bed > exome_only.vcf if your reference version is 38, you can try the exome bed for -b here github.com/AstraZeneca-NG… twitter.com/BrianPardy/sta…