Ewan Birney Profile picture
Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @ewanbirney@genomic.social. I also work with ONT, Dovetail + GeL.

Jun 19, 2020, 7 tweets

Tuning back into #NanoporeConf to hear the great @BenedictPaten talking about their human genome work on nanopore - 11 Genomes in 9 days, assembled by SHASTA - very good results (whole MHC in one contig) and with HiC gets you to almost chromosome assemblies. Whoop!

That was then read data a 89% accuracy back last year - now, just software updates (in Guppy) 93% accuracy and pulls in the left hand tail. This gets even better with R10 chemistry - homopolymers well called to 8 or 9 length.

SHASTA has improved a lot, taking NG50 from 19.2MB to recalled nanopore and better shasta to 32.2MB NG50 - with ultra-long and R10 this can go to 58.5 MB (this is bonkers!)

(Just remarkable de novo assembly using nanopore+SHASTA - brilliant).

Real tour de force - many single chromosome arms come out with full single alignments, 99.75% identity and indels are dropping from 520/100KB to 76/100KB (and polymorphisms are in - ie, there is a floor here above 0).

Do tests with DeepVariant Diploid calling GIAB dataset - short indels are worse than illumina but SNVs is *better* - this is due to SNVs in duplicated regions. Where are the issues - homopolymers >=11bp.

(I note that @BenedictPaten hasn't taken the Benito scheme to this data. So again more headroom).

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