Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
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 …
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
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 …
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 …
genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and …
Impact and characterization of serial structural variations across humans and great apes
Modern sequencing technology enables the systematic detection of complex structural
variation (SV) across genomes. However, extensive DNA rearrangements arising through a …
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
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 …
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 …
(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
Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can
have significant genomic and functional impacts but are technically difficult to identify and …
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 …
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 …
a lack of data resources concerning representative samples, especially for East Asians …