Posts Tagged ‘entex’

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

Interpretation of allele-specific chromatin accessibility using cell state-aware deep learning

May 18, 2021

https://genome.cshlp.org/content/early/2021/04/08/gr.260851.120.abstract

Supplements + resource websites for big genomics papers

March 3, 2021

Ideas on supplements for genomics papers

http://papers.gersteinlab.org/papers/gbsuppl
http://papers.gersteinlab.org/papers/encodecomm

Papers with big supplements (recent structure)

http://papers.gersteinlab.org/papers/cmptxn
http://papers.gersteinlab.org/papers/capstone4
http://papers.gersteinlab.org/papers/encodec

Paper with big supplements (other examples)

http://papers.gersteinlab.org/papers/paperE
http://papers.gersteinlab.org/papers/encodenets
http://papers.gersteinlab.org/papers/wormawg

Determinants of telomere length across human tissues | Science

September 27, 2020

https://science.sciencemag.org/content/369/6509/eaaz6876.full Nice relationship to aging; related to Me analysis

The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight | Science

August 21, 2020

https://science.sciencemag.org/content/364/6436/eaau8650