A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
The sequences of 150,119 genomes in the UK Biobank
BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
The origin of human mutation in light of genomic data
VB Seplyarskiy, S Sunyaev - Nature Reviews Genetics, 2021 - nature.com
Despite years of active research into the role of DNA repair and replication in mutagenesis,
surprisingly little is known about the origin of spontaneous human mutation in the germ line …
surprisingly little is known about the origin of spontaneous human mutation in the germ line …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Differences between germline genomes of monozygotic twins
H Jonsson, E Magnusdottir, HP Eggertsson… - Nature Genetics, 2021 - nature.com
Despite the important role that monozygotic twins have played in genetics research, little is
known about their genomic differences. Here we show that monozygotic twins differ on …
known about their genomic differences. Here we show that monozygotic twins differ on …
Transcription and DNA replication collisions lead to large tandem duplications and expose targetable therapeutic vulnerabilities in cancer
Y Yang, ML Badura, PC O'Leary, HM Delavan… - Nature Cancer, 2024 - nature.com
Despite the abundance of somatic structural variations (SVs) in cancer, the underlying
molecular mechanisms of their formation remain unclear. In the present study, we used …
molecular mechanisms of their formation remain unclear. In the present study, we used …
Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes
More knowledge is needed regarding germline predisposition to Ewing sarcoma to inform
biological investigation and clinical practice. Here, we evaluated the enrichment of …
biological investigation and clinical practice. Here, we evaluated the enrichment of …
A comparison of humans and baboons suggests germline mutation rates do not track cell divisions
In humans, most germline mutations are inherited from the father. This observation has been
widely interpreted as reflecting the replication errors that accrue during spermatogenesis. If …
widely interpreted as reflecting the replication errors that accrue during spermatogenesis. If …
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription
De novo mutations occur at substantially different rates depending on genomic location,
sequence context and DNA strand. The success of methods to estimate selection intensity …
sequence context and DNA strand. The success of methods to estimate selection intensity …