Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

[HTML][HTML] A 25-year odyssey of genomic technology advances and structural variant discovery

D Porubsky, EE Eichler - Cell, 2024 - cell.com
This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations

ME Lauterbur, MIA Cavassim, AL Gladstein, G Gower… - Elife, 2023 - elifesciences.org
Simulation is a key tool in population genetics for both methods development and empirical
research, but producing simulations that recapitulate the main features of genomic datasets …

Structurally divergent and recurrently mutated regions of primate genomes

Y Mao, WT Harvey, D Porubsky, KM Munson… - Cell, 2024 - cell.com
We sequenced and assembled using multiple long-read sequencing technologies the
genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and …

Impact and characterization of serial structural variations across humans and great apes

W Höps, T Rausch, M Jendrusch, JO Korbel… - Nature …, 2024 - nature.com
Modern sequencing technology enables the systematic detection of complex structural
variation (SV) across genomes. However, extensive DNA rearrangements arising through a …

TCAF1 promotes TRPV2-mediated Ca2+ release in response to cytosolic DNA to protect stressed replication forks

L Kong, C Cheng, A Cheruiyot, J Yuan, Y Yang… - Nature …, 2024 - nature.com
The protection of the replication fork structure under stress conditions is essential for
genome maintenance and cancer prevention. A key signaling pathway for fork protection …

TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold‐Sensing TRPM8 Channel

X Li, Q Qi, Y Li, Q Miao, W Yin, J Pan, Z Zhao… - Advanced …, 2023 - Wiley Online Library
Hematogenous metastasis is the main approach for colorectal cancer liver metastasis
(CRCLM). However, as the gatekeepers in the tumor vessels, the role of TPCs in …

Genomic structural variation: A complex but important driver of human evolution

DC Soto, JM Uribe‐Salazar, CJ Shew… - American Journal of …, 2023 - Wiley Online Library
Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can
have significant genomic and functional impacts but are technically difficult to identify and …

Addressing technical pitfalls in pursuit of molecular factors that mediate immunoglobulin gene regulation

E Engelbrecht, OL Rodriguez… - The Journal of …, 2024 - journals.aai.org
The expressed Ab repertoire is a critical determinant of immune-related phenotypes. Ab-
encoding transcripts are distinct from other expressed genes because they are transcribed …

PGG. SV: a whole-genome-sequencing-based structural variant resource and data analysis platform

Y Wang, Y Ling, J Gong, X Zhao, H Zhou… - Nucleic Acids …, 2023 - academic.oup.com
Structural variations (SVs) play important roles in human evolution and diseases, but there is
a lack of data resources concerning representative samples, especially for East Asians …