Results 41 to 50 of about 145,194 (219)

The variance of identity-by-descent sharing in the Wright-Fisher model

open access: yes, 2013
Widespread sharing of long, identical-by-descent (IBD) genetic segments is a hallmark of populations that have experienced recent genetic drift. Detection of these IBD segments has recently become feasible, enabling a wide range of applications from ...
Ariel Darvasi   +8 more
core   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon   +9 more
wiley   +1 more source

Genomic-transcriptomic analysis identifies the Syrian hamster as a superior animal model for human diseases

open access: yesBMC Genomics
Background The Syrian hamster (Mesocricetus auratus) has shown promise as a human diseases model, recapitulating features of different human diseases including COVID-19.
Chuchu Wang   +30 more
doaj   +1 more source

UBR2 of the N-end rule pathway is required for chromosome stability via histone ubiquitylation in spermatocytes and somatic cells [PDF]

open access: yes, 2012
The N-end rule pathway is a proteolytic system in which its recognition components (N-recognins) recognize destabilizing N-terminal residues of short-lived proteins as an essential element of specific degrons, called N-degrons.
An, JY   +12 more
core   +1 more source

RaMBat: Accurate identification of medulloblastoma subtypes from diverse data sources with severe batch effects

open access: yesMolecular Oncology, EarlyView.
To integrate multiple transcriptomics data with severe batch effects for identifying MB subtypes, we developed a novel and accurate computational method named RaMBat, which leveraged subtype‐specific gene expression ranking information instead of absolute gene expression levels to address batch effects of diverse data sources.
Mengtao Sun, Jieqiong Wang, Shibiao Wan
wiley   +1 more source

Non-extensive Trends in the Size Distribution of Coding and Non-coding DNA Sequences in the Human Genome

open access: yes, 2005
We study the primary DNA structure of four of the most completely sequenced human chromosomes (including chromosome 19 which is the most dense in coding), using Non-extensive Statistics.
Oikonomou, Th., Provata, A.
core   +2 more sources

Meiotic sex chromosome cohesion and autosomal synapsis are supported by Esco2.

open access: yes, 2020
In mitotic cells, establishment of sister chromatid cohesion requires acetylation of the cohesin subunit SMC3 (acSMC3) by ESCO1 and/or ESCO2. Meiotic cohesin plays additional but poorly understood roles in the formation of chromosome axial elements (AEs)
Biswas, U.   +6 more
core   +1 more source

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

open access: yesMolecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel   +6 more
wiley   +1 more source

Demography and the age of rare variants

open access: yes, 2014
Large whole-genome sequencing projects have provided access to much of the rare variation in human populations, which is highly informative about population structure and recent demography. Here, we show how the age of rare variants can be estimated from
Mathieson, Iain, McVean, Gil
core   +3 more sources

Unified theory of human genome reveals a constrained spatial chromosomal arrangement in interphase nuclei [PDF]

open access: yes, 2015
We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across all pairs of ...
Fatakia, Sarosh N.   +2 more
core   +2 more sources

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