Tina Han

Look forward to seeing everyone at #ASHG25! Our poster will showcase how we can bring exome sequencing to the next level -

Board 8011F: Utilization of Twist CNV Backbone Spike-in Panel with exome for replacing cytogenetic arrays

Stop by @twistbioscience.com booth #559 for more info

Couldn’t be prouder of this collaboration on targeted long-read sequencing for pharmacogenomics! #PGx

The Somatic Mosaicism across Human Tissues Network - Nature The Somatic Mosaicism across Human Tissues Network aims to create a reference catalogue of somatic mosaicism across different tissues and cells within individuals.

The cells in our bodies constantly acquire mutations. But what are the patterns of mutations across tissues? How do mutations in normal cells lead to cancer and disease? These are questions we will tackle within the Somatic Mosaicism across Human Tissues (SMaHT) Network, now described in @nature.com

Optimized in-solution enrichment of over a million ancient human SNPs - Genome Biology Background In-solution hybridization enrichment of genetic markers is a method of choice in paleogenomic studies, where the DNA of interest is generally heavily fragmented and contaminated with enviro...

Excited to share our new paper! We benchmarked the Twist Ancient DNA kit for in-solution enrichment. It’s cost-effective, robust, and shows no allelic bias, even when pooling libraries!
@acadresearch.bsky.social @dnatimetravel.bsky.social @twistbioscience.com
doi.org/10.1186/s130...

Comparison of spatial transcriptomics technologies using tumor cryosections. #SpatialTranscriptomics #TechnologiesBenchmarking #Genomics #Bioinformatics #GenomeBiology 🧬 🖥️
genomebiology.biomedcentral.com/articles/10....

Preprint on "Improving spliced alignment by modeling splice sites with deep learning". It describes minisplice for modeling splice signals. Minimap2 and miniprot now optionally use the predicted scores to improve spliced alignment.
arxiv.org/abs/2506.12986

Development and validation of HIV SMRTcap for the characterization of HIV-1 reservoirs across tissues and subtypes Human Immunodeficiency Virus type 1 (HIV-1) is responsible for the global HIV/AIDS epidemic and the establishment of an integrated HIV-1 reservoir remains the primary obstacle to cure. Upon therapy in...

from our own @tingfordha.bsky.social — Development and validation of HIV SMRTcap for the characterization of HIV-1 reservoirs across tissues and subtypes:
www.biorxiv.org/content/10.1...

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease #RareDisease #Genetics genomemedicine.biomedcentral.com/articles/10....

Transcriptomics in the era of long-read sequencing Nature Reviews Genetics, Published online: 28 March 2025; doi:10.1038/s41576-025-00828-zAdvances in long-read sequencing are driving the implementation of these technologies for transcriptome profiling. The authors provide a comprehensive guide to long-read RNA sequencing, including experimental and computational tools, current applications, challenges and opportunities.

FYI: New online! Transcriptomics in the era of long-read sequencing

✅ 1283 from University at Buffalo - Targeted genetic profiling of a de novo neuroendocrine patient-derived xenograft (PDX) and organoid model of prostate cancer from patient with African Ancestry www.abstractsonline.com/pp8/#!/20273...

✅ 7173 from Universitätsklinikum Münster: Comprehensive genomic profiling reveals novel insights into the genomic landscape of extraskeletal myxoid chondrosarcomas www.abstractsonline.com/pp8/#!/20273...

✅ 3240 from IMBdx and Yonsei University: Analytical validation of CancerDetect RUO assay: a minimal residual disease detection test that integrates tumor-informed and tumor-agnostic approaches with large-scale mutation monitoring www.abstractsonline.com/pp8/#!/20273...

✅ 1492 from Universitätsklinikum Münster: Clinical validation on the PAOLA-1/ENGOT-ov25 cohort of HRD calculation performed with the #OncoDEEP kit comprehensive genomic panel www.abstractsonline.com/pp8/#!/20273...

✅ 225 from Scale Biosciences: Single Cell DNA methylomes from multiple tissues demonstrate tissue heterogeneity and target enrichment as a driver of read utility www.abstractsonline.com/pp8/#!/20273...

✅ 1263 from MD Anderson Cancer Center: Reconstructing small cell lung cancer evolution using deep whole genome sequencing of circulating tumor DNA www.abstractsonline.com/pp8/#!/20273...

✅ 1108 from AstraZeneca: Tissue and circulating DNA methylation profiling can recapitulate SCLC heterogeneity to enable identification of new biomarkers of clinical relevance www.abstractsonline.com/pp8/#!/20273...

I’m heading to #AACR25 in Chicago! Please look out for me if you'd like to speak about anything from liquid biopsy to CGP to WES to WGS to long-read sequencing!

Here is my must-see list of posters -

Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSam..., based on extensive short+long read sequencing data described in doi.org/10.1101/2024.... Feedback to improve future versions is very welcome!

#RareDiseaseDay #WES #LongRead @twistbioscience.com

Closing the gap: Solving complex medically relevant genes at scale Comprehending the mechanism behind human diseases with an established heritable component represents the forefront of personalized medicine. Nevertheless, numerous medically important genes are inaccu...

- In collaboration with @sedlazeck.bsky.social et al. at BCM-HGSC we developed a long-read Dark Genes panel that allows researchers to interrogate whatever was not accessible with short-read WGS by “Closing the gap: Solving complex medically relevant genes at scale” www.medrxiv.org/content/10.1...

- In this interactive TechNote Twist Exome has the most uniform coverage compared to 4 competing panels. Combining a low duplicate rate and high on-target rate, it covers 97% of the target bases at least 30x coverage with only 6Gb sequencing www.twistbioscience.com/resources/te...

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing - Human Genomics Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main de...

- Radboud UMC in Nijmegen demonstrated that Twist exome capture allows for lower average sequence coverage in clinical exome sequencing humgenomics.biomedcentral.com/articles/10.... @radboudumc.bsky.social

Today is Rare Disease Day, we’re thankful that researchers and clinicians have been utilizing @twistbioscience.com products for solving these puzzles. Here are some highlights:

nf-core/variantbenchmarking v1.0.0: Nextflow pipeline to evaluate and validate the accuracy of variant calling methods https://github.com/nf-core/variantbenchmarking 🧬🖥️🧪

Lancet2: Improved and accelerated somatic variant calling with joint multi-sample local assembly graph https://www.biorxiv.org/content/10.1101/2025.02.18.638852v1

Unlock targeted single-cell sequencing with Twist Exome Enrichment Kits, powered by #PacBio Kinnex. This robust workflow enriches spliced mRNA from single-nuclei libraries for high-res transcript discovery. Check out our tech note & learn more at our #AGBT Lanai Suite 289! bit.ly/3QqD6l5

Evaluating metagenomics and targeted approaches for diagnosis and surveillance of viruses - Genome Medicine Background Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-read sequencing are becoming established in diagnostic laboratories. ...

ONT vs Illumina approach for diagnosis and surveillance of #viruses

genomemedicine.biomedcentral.com/articles/10....

“Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA” with 2000x WES or 150x WGS. From the lab of @skandlab.bsky.social at Genome Institute of Singapore www.biorxiv.org/content/10.1...

Safe travels!

🏝️ #AGBT we are excited to see YOU at the biggest genomics meeting in the 🌍

Ready to accelerate your next breakthrough? Book a 1:1 with to explore how Twist's cutting-edge NGS solutions can advance your research: calendly.com/twist_events...

#AGBTGM #AGBT25 @twistbioscience.com