LauferVA ★ 4.2k
Role: Moderator
Status: Active
Handle: @pangenome
Reputation: 4210
Joined: 9.7 years ago
Twitter: @vincent_laufer
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Last seen: 8 hours ago
Location: United States

My Clinical appointment is as a fellow in Molecular Genetics (interpretation of genetic tests ordered by doctors for patients; 2023-4) and Clinical Informatics (use of information systems and clinical data mining to improve healthcare; 2023-5) in Laboratory Medicine at Michigan.

Scientific interests flow from the belief that in ~5 years time today's genomics (short-read sequencing aligned to a single linear reference genome, and presented as SNVs in .vcf file, without epigenetic information) will be entirely supplanted by emerging technologies that capture long, contiguous stretches of genetic and epigenetic variation. Such a rapid transformation entails development of data structures and software that can represent diverse, gapless, phased, human haplotypes and their annotations.

Private ventures tend to relate to either:

1) software development, typically for clinical workflows and pharmaceutical firms, or also on an ad hoc basis with contribution to a client's narrative in mind.

2) application of multimodal ai to clinicogenomic data

3) (meta-)analytical consultancy, typically of integrated/multimodal 'omics datasets, whether with mechanistic, prognostic, therapy-related, or strategic goals in mind (please use for professional inquiries).

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