Mike Cormier, PhD, MS @dr_mikecormier

Bioinformatics Scientist. Focused on improving the diagnosis and treatment of genetic diseases using computational and statistical methods. Opinions are my own Salt Lake City, UT Joined February 2019

Tweets

32
Followers

126
Following

175
Likes

58

Mike Cormier, PhD, MS @dr_mikecormier

3 years ago

Our manuscript describing the genetic constraint of splicing in coding and non-coding regions of proteins-coding genes is out! We use this model to predict deleterious splicing at a per-base resolution with ConSpliceML in #RareDisease. #Bioinformatics #ML bmcbioinformatics.biomedcentral.com/articles/10.11…

0 10 39 0 15

Tom @FakeDrTom

3 years ago

SVAFotate is now (officially) published! My need for a way to add population AFs to my SVs resulted in this tool. Give it a look if you would like to find ways to leverage available public SV datasets in your efforts to identify candidate SVs. bmcbioinformatics.biomedcentral.com/articles/10.11…

1 7 14 0 3

Aaron Quinlan @aaronquinlan

4 years ago

@1MikeCormier is now @1MikeCormier, PhD. Congrats on a killer dissertation and a wonderful defense today. We are so proud of you!

0 1 5 0 0

bioRxiv @biorxivpreprint

4 years ago

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies biorxiv.org/cgi/content/sh… #bioRxiv

0 1 1 0 0

bioRxiv Genomics @biorxiv_genomic

4 years ago

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies biorxiv.org/cgi/content/sh… #biorxiv_genomic

0 2 3 0 3

Tom @FakeDrTom

4 years ago

Thrilled to see the Utah NeoSeq Project featured in this year's #UGivingDay! Please check out some of the great real-world applications of genomics that I am happy to be a part of and consider contributing if you are able. givingday.utah.edu/o/university-o…

0 2 9 0 0

Aaron Quinlan @aaronquinlan

4 years ago

A fantastic training resource with a ton of potential from @RobAboukhalil

Robert Aboukhalil @RobAboukhalil

4 years ago

A fantastic training resource with a ton of potential from @RobAboukhalil

23 422 1K 0 331

Download Image

0 4 13 0 6

brent pedersen @brent_p

4 years ago

Our paper on effective variant filtering and expected candidate yield is out. (work with @aaronquinlan et al) nature.com/articles/s4152… we derive simple, hard filters on GQ, depth and allele balance the work in exome, genome for GATK, DV. a starting point for best-practices.

1 36 104 0 20

Nature Computational Science @NatComputSci

4 years ago

In a recent Resource, @haohou302, @brent_p and @aaronquinlan propose the D4 format (and associated tools) to improve the speed at which genomic datasets are queried for biological inquiry (rdcu.be/cmWbe). nature.com/articles/s4358…

1 8 12 0 3

Tom @FakeDrTom

4 years ago

Did some revamping to my previously simple SVAFotate tool. Same basic function of adding SV AF metrics to your VCF remains, but now with a lot more options and hopefully improvements. Still under development, but should be usable! Happy for any feedback! github.com/fakedrtom/SVAF…

1 1 0 0 0

Genome Biology @GenomeBiology

4 years ago

Samplot: from @jon_belyeu, Chowdhury, @ryanlayer and co, for visualizing read alignment at suspected structural variants, to aid manual curation of SVs. Human input is a good way of resolving false positives from automated SV callers. genomebiology.biomedcentral.com/articles/10.11…

0 27 90 0 15

Download Image

Jon Belyeu @jon_belyeu

4 years ago

Several people have asked about my plans now that I've defended my PhD dissertation (which makes me feel extremely valued actually so thanks y'all!). I'm very excited to announce that I'll be joining @illumina to work with @MikeEberle and @xiaoxchen!

8 3 64 0 0

Aaron Quinlan @aaronquinlan

4 years ago

Please welcome @jon_belyeu, the latest PhD from our lab. He delivered a fantastic presentation on his efforts to characterize de novo structural mutations in human gametes. Congrats, Jon!

0 3 45 0 0

Download Image

Aaron Quinlan @aaronquinlan

5 years ago

Congrats to @1MikeCormier on his new paper describing Go Get Data (GGD), a new tool that leverages Conda (with caching for speed) to install _data_ recipes for genome annotations and other datasets. e.g., "-c genomics grch38-cpg-islands-ucsc-v1" nature.com/articles/s4146…

2 35 110 0 22

Mike Cormier, PhD, MS @dr_mikecormier

5 years ago

Check out our new paper on GoGetData, a genomic data management system for installing and maintaining reproducible data recipes. nature.com/articles/s4146…

0 0 3 0 0

Olivier Elemento @ElementoLab

5 years ago

Genome sequencing can lead to life-changing care for infants. California should make it more available. Other states should do so too! sandiegouniontribune.com/opinion/commen…

0 4 6 0 0

Jon Belyeu @jon_belyeu

5 years ago

My big ole analysis of de novo SVs is now online at cell.com/ajhg/fulltext/…. Huuuuge thanks to Mike @TalkowskiLab & Harrison Brand

3 28 67 0 11

Heng Li @lh3lh3

5 years ago

This is THE most comprehensive human genomic sequence data you can find today. Perhaps more importantly, it is public like the 1000 Genomes data. NHGRI and HPRC have worked hard to make this happen.

Human Pangenome Reference Consortium @HumanPangenome

5 years ago

This is THE most comprehensive human genomic sequence data you can find today. Perhaps more importantly, it is public like the 1000 Genomes data. NHGRI and HPRC have worked hard to make this happen.

1 141 301 0 25

1 117 350 0 22

Aaron Quinlan @aaronquinlan

5 years ago

Searching for CNVs in rare disease WGS cases that may have been missed by tools like smoove, manta, etc., have a look at covviz from @brwn_j and @brent_p. Interactive, fast and highlights individuals with significant changes in coverage. Also good for QC. brwnj.github.io/covviz/