Lightnews — Scholar-powered news

Tina Han @tingfordha.bsky.social · 2d

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

1 4

Tina Han @tingfordha.bsky.social · 26d

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

Twist Bioscience @twistbioscience.com · Sep 8

Stanford Health Care is expanding its pharmacogenomics program (SPIRA) into primary care, using long-read sequencing powered by @twistbioscience.com + @pacbio.bsky.social to guide safer, more personalized prescriptions.
👇

Stanford PGx Program Expands to Primary Care Population With Long-Read Sequencing Panel

With grant funding from an in-house program called Catalyst, collaborators began an upfront pharmacogenomics pilot earlier this year in elder care, which is now expanding to the primary care setting.

www.precisionmedicineonline.com

1 3

Reposted by Tina Han

Tim Coorens @timcoorens.bsky.social · Jul 3

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

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.

www.nature.com

1 9 33

Reposted by Tina Han

Xavier Roca-Rada, PhD @xavierrocarada.bsky.social · Jul 3

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...

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...

doi.org

1 5 9

Reposted by Tina Han

Javier Santoyo @jsantoyo.bsky.social · Jun 24

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

1

Reposted by Tina Han

Heng Li @lh3lh3.bsky.social · Jun 17

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

54 110

Reposted by Tina Han

Twist Bioscience @twistbioscience.com · May 16

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...

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...

www.biorxiv.org

1 1

Reposted by Tina Han

franmartinezgr.bsky.social @franmartinezgr.bsky.social · Apr 16

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

5 7

Reposted by Tina Han

Nature Reviews Genetics @natrevgenet.nature.com · Apr 18

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

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.

www.nature.com

1 19 31