Posts Tagged ‘entex’

With AlphaGenome, Researchers Are Using A.I. to Decode the Human Blueprint – The New York Times

January 28, 2026

https://www.nytimes.com/2026/01/28/science/alphagenome-ai-deepmind-genetics.html

QT:{{”
But Dr. Koo and other outside experts cautioned that it represented just one step on a long road ahead. “This is not AlphaFold, and it’s not going to win the Nobel Prize,” said Mark Gerstein, a computational biologist at Yale.

AlphaGenome will be useful. Dr. Gerstein said that he would probably add it to his toolbox for exploring DNA, and others expect to follow suit. But not all scientists trust A.I. programs like AlphaGenome to help them understand the genome.

In 2021, Dr. Avsec and his colleagues unveiled a preliminary A.I. called Enformer, which they have since expanded into AlphaGenome. They trained the program on an even greater expanse of biological data. “It’s really an industrial scale,” Dr. Gerstein said
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Benchmarking joint multi-omics dimensionality reduction approaches for the study of cancer | Nature Communications

November 20, 2024

https://www.nature.com/articles/s41467-020-20430-7

Transformers — Intuitively and Exhaustively Explained | by Daniel Warfield | Towards Data Science

December 15, 2023

https://towardsdatascience.com/transformers-intuitively-and-exhaustively-explained-58a5c5df8dbb

ADASTRA – Allelic Dosage corrected Allele-Specific human Transcription factor binding sites

September 14, 2023

https://adastra.autosome.org/bill-cipher

Gencode Transcriptome variation in human tissues revealed by long-read sequencing | Nature

August 8, 2022

https://www.nature.com/articles/s41586-022-05035-y

A single-cell atlas of chromatin accessibility in the human genome: Cell

November 12, 2021

https://www.cell.com/cell/fulltext/S0092-8674(21)01279-4

A single-cell atlas of chromatin accessibility in the human genome

Kai Zhang 8
James D. Hocker 8
Michael Miller
….
Allen Wang
Sebastian Preissl
Bing Ren 9

Published:November 12, 2021
DOI:https://doi.org/10.1016/j.cell.2021.10.024

What is the Difference Between Test and Validation Datasets?

November 10, 2021

https://machinelearningmastery.com/difference-test-validation-datasets/

interesting gene showing partial penetrance (Genome Web)

October 24, 2021

https://www.genomeweb.com/sequencing/uk-biobank-study-investigates-incomplete-penetrance-mendelian-disease-variants

UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants

Oct 21, 2021 | Julia Karow

Remove from my reading list

NEW YORK – Recessive Mendelian disorders are caused by mutations in both copies of a gene, but heterozygous carriers can sometimes also show mild phenotypes.

To study such incomplete penetrance of disease variants in greater detail, researchers have analyzed genetic data from the UK Biobank.

motif discovery on personal genomes

October 9, 2021

https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1009444

Allele-Specific QTL Fine Mapping with PLASMA: The American Journal of Human Genetics

July 17, 2021

https://www.cell.com/ajhg/fulltext/S0002-9297(19)30505-1