Samantha Klasfeld #opentowork
@sklasfeld.bsky.social
Bioinformatics postdoctoral research fellow
Pinned
📣New from @sklasfeld.bsky.social & co!
📄Common genetic modifiers influence #cardiomyopathy susceptibility among the carriers of rare pathogenic variants
👉https://tinyurl.com/2rsbzphf
📄Common genetic modifiers influence #cardiomyopathy susceptibility among the carriers of rare pathogenic variants
👉https://tinyurl.com/2rsbzphf
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.
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.
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...
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...
New Year, New Connections Social
The online presence of Women in Bioinformatics in the Boston Area
boston-wib.org
December 20, 2025 at 2:03 AM
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...
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...
Reposted by Samantha Klasfeld #opentowork
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
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
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.
rdcu.be
November 24, 2025 at 1:35 PM
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
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 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
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
What Your Favorite Biobank Says About You
We asked 500,000 researchers which biobank they stan, and the results were… scientifically significant.
lnkd.in
November 24, 2025 at 12:02 PM
✨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
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
🧬 💻 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
🔗 boston-wib.org/blog/deepdiv...
#InclusiveResearch #EquityInScience #DiversityInSTEM
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.
boston-wib.org
September 4, 2025 at 1:10 AM
🧬 💻 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
🔗 boston-wib.org/blog/deepdiv...
#InclusiveResearch #EquityInScience #DiversityInSTEM
💻 🧬 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...
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 ...
tinyurl.com
August 22, 2025 at 5:18 PM
💻 🧬 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...
💻🧬 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
Conducted by Boston Women in Bioinformatics (BWIB), all responses are anonymous. [~5 min]
Google Form:
tinyurl.com/mm424zdw
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
media.tenor.com
August 20, 2025 at 12:58 PM
💻🧬 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
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
June 24, 2025 at 10:04 PM
🧬💻 "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
Reposted by Samantha Klasfeld #opentowork
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
May 29, 2025 at 8:48 PM
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.
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.
📣New from @sklasfeld.bsky.social & co!
📄Common genetic modifiers influence #cardiomyopathy susceptibility among the carriers of rare pathogenic variants
👉https://tinyurl.com/2rsbzphf
📄Common genetic modifiers influence #cardiomyopathy susceptibility among the carriers of rare pathogenic variants
👉https://tinyurl.com/2rsbzphf
May 29, 2025 at 3:07 PM
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.
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.
May 28, 2025 at 9:21 PM
🧬🖥️ 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.
Reposted by Samantha Klasfeld #opentowork
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...
March 13, 2025 at 6:48 PM
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
Tailors
emze.csail.mit.edu
March 7, 2025 at 3:14 PM
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
#Genetics #Bioinformatics
www.medrxiv.org
January 7, 2025 at 10:09 PM
🧬 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
#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.
Happy New Year! Our GPN-MSA paper is finally published, under a slightly different title from the preprint. Please check it out and share it with your colleagues:
doi.org/10.1038/s415...
1/4
doi.org/10.1038/s415...
1/4
A DNA language model based on multispecies alignment predicts the effects of genome-wide variants - Nature Biotechnology
A language model predicts the effects of genetic variants in the human genome.
doi.org
January 3, 2025 at 4:05 PM
🧬 New DNA language model using evolutionary conservation provides exciting results and an intriguing discussion on where specific models may outperform due to certain conditions.
Reposted by Samantha Klasfeld #opentowork
🧬 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🧵
1/15🧵
December 9, 2024 at 5:42 PM
🧬 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🧵
1/15🧵
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...
www.biorxiv.org/content/10.1...
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...
www.biorxiv.org
December 12, 2024 at 8:23 PM
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...
www.biorxiv.org/content/10.1...