Results 21 to 30 of about 10,071,580 (356)

Sequencing the Human Genome [PDF]

open access: yesScience, 1986
The title of the report by R. Myerowitz and N. Hogikyan on page 1646 of the issue of 27 June was incorrect. It should have been "Different mutations in Ashkenazi Jews and non-Jewish French Canadians with Tay-Sachs disease."
James Bruce Walsh, Jon Marks
openaire   +6 more sources

Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates

open access: yesBMC Evolutionary Biology, 2020
Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris   +3 more
doaj   +1 more source

GDC 2: Compression of large collections of genomes [PDF]

open access: yesScientific Reports, Article no. 11565 (2015), 2015
The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid in the personalized medicine.
arxiv   +1 more source

The genomics of the human endometrium

open access: yesBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Carlos Simón   +2 more
openaire   +3 more sources

The human genome browser at UCSC.

open access: yesGenome Research, 2002
As vertebrate genome sequences near completion and research refocuses to their analysis, the issue of effective genome annotation display becomes critical.
W. Kent   +6 more
semanticscholar   +1 more source

Segmental duplications and their variation in a complete human genome

open access: yesbioRxiv, 2021
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13), we
Mitchell R. Vollger   +19 more
semanticscholar   +1 more source

CoRe: a robustly benchmarked R package for identifying core-fitness genes in genome-wide pooled CRISPR-Cas9 screens

open access: yesBMC Genomics, 2021
Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti   +6 more
doaj   +1 more source

On the sequencing of the human genome [PDF]

open access: yesProceedings of the National Academy of Sciences, 2002
Two recent papers using different approaches reported draft sequences of the human genome. The international Human Genome Project (HGP) used the hierarchical shotgun approach, whereas Celera Genomics adopted the whole-genome shotgun (WGS) approach. Here, we analyze whether the latter paper provides a meaningful test of the WGS approach on a mammalian ...
Waterston, Robert H.   +2 more
openaire   +3 more sources

A map of human genome variation from population-scale sequencing

open access: yesNature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis   +7 more
semanticscholar   +1 more source

Pan-cancer analysis of mRNA stability for decoding tumour post-transcriptional programs

open access: yesCommunications Biology, 2022
The role of mRNA stability in shaping the cancer transcriptome is revealed using a statistical analysis of transcriptomic data.
Gabrielle Perron   +8 more
doaj   +1 more source

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