Samantha Klasfeld #opentowork

💻🧬 Kick off 2026 with Boston Women in Bioinformatics! Join us Jan 15 for informal networking. Women, gender-diverse folks, & allies welcome. CambridgeSide Mall, 5:30pm.
luma.com/6lpamkjb

Please share with your Boston bioinformatics community!

#boston #bioinformatics #event #cambridge

New Year, New Connections Social The online presence of Women in Bioinformatics in the Boston Area

Read to the tune of "I Have a Little Dreidel" 🕎 :

I have a great event planned
In Cambridge it will be
For bioinformatics friends
On January fifteen!
Oh network, network, network
With friends old and new
Oh network, network, network
We're saving space for you!

boston-wib.org/events/event...

Proteome-wide model for human disease genetics Nature Genetics - popEVE is a proteome-wide deep generative model to identify and predict pathogenicity of missense mutations causing genetic disorders.

popEVE is out in Nature Genetics! 🎉
We built a proteome-wide model that combines cross-species and human population variation to rank missense variants by disease severity and help diagnose rare genetic disorders.
rdcu.be/eRu7K

What Your Favorite Biobank Says About You We asked 500,000 researchers which biobank they stan, and the results were… scientifically significant.

✨What Your Favorite Biobank Says About You✨

We spend so much time talking about pipelines, QC, and variant harmonization, but sometimes it’s nice to laugh at ourselves and the quirks of our field.

👉 boston-wib.org/blog/quickta...

#human-genetics #science-humour #biobanks

The Genomics Diversity Crisis: Why DEI Isn't Just About Workplace Culture When 86% of genomic data comes from European ancestry, treatments built on this data will inevitably fail marginalized communities.

🧬 💻 In my first blog post with Boston Women in Bioinformatics, I unpack how meaningful inclusion in genetics research not only addresses ethical imperatives but also unlocks more robust scientific insights.

🔗 boston-wib.org/blog/deepdiv...

#InclusiveResearch #EquityInScience #DiversityInSTEM

State of the Biotech Job Market: A Survey on Employment Experiences in Biotechnology, Bioinformatics, and Data Science This survey aims to understand the current employment landscape and job search experiences of professionals in biotechnology, bioinformatics, and data science fields. We're collecting data on various ...

💻 🧬 New survey for job seekers AND hiring teams in biotech/bioinformatics/data science. ~10 min, anonymous, results shared with community. Please take it AND share with your network! tinyurl.com/biotechjobma...

a cat wearing a pair of glasses with the words talk data to me above it ALT: a cat wearing a pair of glasses with the words talk data to me above it

💻🧬 Are you a computational biologist? Working in an adjacent field? Please respond to this survey to support community-driven research and programming.

Conducted by Boston Women in Bioinformatics (BWIB), all responses are anonymous. [~5 min]

Google Form:
tinyurl.com/mm424zdw

🧬💻 "It was the best of times, it was the worst of times" - Eric Green, Former Director of the National Human Genome Research Institute, quoting Mark Twain #FoG #FoGBoston #FoG2025 #FestivalOfGenomics #FesivalOfGenomicsBoston

Exploring the interplay of rare pathogenic variants and common genetic modifiers of cardiomyopathy, @hggadvances.bsky.social's latest study carefully assesses the benefits provided by variant effect predictions: www.cell.com/hgg-advances... @sklasfeld.bsky.social #ASHG #HumanGenetics

Excited to share my work is published in HGG Advances! 🧬🖥️
Thankful to my mentors at Pfizer for the incredible opportunity.
TL;DR We explore the interplay between rare pathogenic variants and common genetic modifiers of cardiomyopathy and provide an assessment of variant effect predictions.

🧬🖥️ Super cool work! This blog post introduces the idea that our sociopolitical ecosystem can cause inherit biases in statistical methods, and the paper reviews existing and future approaches to improve our practices.

A French University is funding a Safe Place For Science program meant to recruit scientists who cannot continue their work in the US. www.univ-amu.fr/fr/public/a...

Taylor swift or Tailor Swiftiles? emze.csail.mit.edu/tailors #wids2025 #widscambridge #womenindatascience #efficientcomputing

🧬 I'm delighted to share the preprint to my postdoc project where we used predicted rare pathogenic variants to improve our understanding of the interplay between common genetic modifiers and rare pathogenic mutations in cardiomyopathy risk. www.medrxiv.org/content/10.1...
#Genetics #Bioinformatics

🧬 New DNA language model using evolutionary conservation provides exciting results and an intriguing discussion on where specific models may outperform due to certain conditions.

🧬 Thrilled to share Knowledge Graph GWAS (KGWAS), the largest AI model that integrates >10 millions of multi-modal and multi-scale functional genomics data to improve GWAS power by 100% while discovering novel disease-critical variants, genes, cells, and networks!

1/15🧵

Thank you @ericfauman.bsky.social for sharing this intriguing paper!

Striking Departures from Polygenic Architecture in the Tails of Complex Traits Understanding the genetic architecture of human traits is of key biological, medical and evolutionary importance[[1][1]]. Despite much progress, little is known about how genetic architecture varies a...

For many quantitative phenotypes with selective pressure at their high and low ends (the "tails"), the association between PRS and the trait is diminished at these extremes due to high-impact rare variant alleles not included in the PRS.
www.biorxiv.org/content/10.1...

What a beautiful bedtime story for baby geneticists 😊