Amit Rupani

@IAnalyzeGenomes

Clinical Bioinformaticist . Developing, testing and validating bioinformatics pipelines/tools for their clinical use. RT/Like≠Endorse. Views are my own.

Vrijeme pridruživanja: rujan 2012.

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  1. Prikvačeni tweet
    15. pro 2019.

    ..and it was a SUCCESS!😀 CallVars, now takes paired-end for multiple samples, to a filtered (key filter is AF) list of variants (+) in targeted , with just one word command on CLI i.e "". 🧬Check it out!🧬

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  2. proslijedio/la je Tweet
    prije 2 sata

    pipeComp : a general framework for the evaluation of computational pipelines, reveals performant scRNA preprocessing tools From what I have learnt analyzing multiple scRNA-seq datasets is that choice of tool set is generally data dependent.

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  3. proslijedio/la je Tweet
    prije 7 sati

    New video in Bioinformatics in Python series is out: DNA Toolset #2 via

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  4. proslijedio/la je Tweet
    prije 8 sati

    Introducing "Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED" with et al. Does selective enrichment and depletion of any targeted genomic region purely in software for sequencing.

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  5. proslijedio/la je Tweet
    prije 6 sati

    From reads to insight: a hitchhiker’s guide to ATAC-seq data analysis

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  6. proslijedio/la je Tweet
    31. sij

    VarFish - Collaborative and Comprehensive Variant Analysis for Diagnosis and Research

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  7. proslijedio/la je Tweet
    29. sij

    UMI-VarCal: a new UMI-based variant caller that efficiently improves low-frequency variant detection in paired-end sequencing NGS libraries.

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  8. 1. velj

    Very informative thread explaining scarcity vs abundance mindset. Beautiful read!

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  9. 31. sij

    With a total of 8 workout days and 8000 average walking steps in Jan, I have a decent start to 2020. Thanks for encouraging to stay fit through your program. Certainly motivating me to do better in coming months!😉

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  10. proslijedio/la je Tweet
    29. sij

    Interesting discussion on the important distinctions between tumor-specific antigens, "neoantigens" and (MHC)-associated peptides.

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  11. 28. sij

    Genetic testing provides insights to sudden unexplained deaths in Amish community

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  12. proslijedio/la je Tweet
    28. sij

    Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

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  13. proslijedio/la je Tweet
    28. sij

    Largest exome sequencing of 35,584 samples to delineate developmental & functional changes in . Identified 102 risk genes for ASD; most have role in regulation of gene expression or neuronal communication.

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  14. proslijedio/la je Tweet
    28. sij

    "Jumping genes" -- bits of DNA that can move from one spot in the genome to another -- are well-known for increasing genetic diversity over the long course of evolution. Now, new research at Washington University School of Medicine…

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  15. proslijedio/la je Tweet
    27. sij

    HG002 data release from . HiFi, CLR, PromethION, GridION, Hi-C, Strand-seq, opmaps... CC0-licensed. Benchmarking to inform production sequencing recipe

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  16. 27. sij

    AWK one liner that list values in a column using "column name". awk -F"\t" -v col=column_name 'NR==1{for(i=1;i<=NF;i++) if($i==col) break; print } NR>1{print }' File.vcf Helps working with high # of columns in a file where its tough to track their positions.

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  17. proslijedio/la je Tweet
    27. sij

    Do you know how autosomal dominant, autosomal recessive and X-linked genetic conditions are passed down within a family? Our NEW short animations will show you how.

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  18. proslijedio/la je Tweet
    27. sij

    Working with or data? Check out our new free plugin for CLC Workbench users working with ! De novo assembly, hybrid-assembly, read mapping, error correction and polishing. New Blog PleaseRT! 🚀🧬🦠😁

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  19. proslijedio/la je Tweet
    27. sij
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  20. proslijedio/la je Tweet
    27. sij

    UST bets on TELL-Seq - new linked read reagent kit for Illumina sequencers from Universal Sequencing Technology

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  21. proslijedio/la je Tweet
    27. sij

    I'd be particularly curious what the best current and assemblies for NA12878 find in these locations. Perhaps have insight from

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