Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations
Whole-genome sequencing studies of parent–offspring trios have provided valuable insights
into the potential impact of de novo mutations (DNMs) on human health and disease …
into the potential impact of de novo mutations (DNMs) on human health and disease …
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer
Variation in DNA repair genes can increase cancer risk by elevating the rate of oncogenic
mutation. Defects in one such gene, MUTYH, are known to elevate the incidence of …
mutation. Defects in one such gene, MUTYH, are known to elevate the incidence of …
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
JK Ng, P Vats, E Fritz‐Waters, S Sarkar… - Human …, 2022 - Wiley Online Library
Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and
mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based …
mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based …
Unprecedented female mutation bias in the aye-aye, a highly unusual lemur from Madagascar
Every mammal studied to date has been found to have a male mutation bias: male parents
transmit more de novo mutations to offspring than female parents, contributing increasingly …
transmit more de novo mutations to offspring than female parents, contributing increasingly …
Patterns and distribution of de novo mutations in multiplex Middle Eastern families
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a
high number of rare disorders. To date, no study has systematically examined the rate and …
high number of rare disorders. To date, no study has systematically examined the rate and …
Deciphering the role of germline complex de novo structural variations in rare disorders
H Jung, TP Yang, S Walker, P Danecek, IG Salinas… - bioRxiv, 2024 - biorxiv.org
De novo structural variants (dnSVs) have emerged as crucial genetic factors in the context of
rare disorders. However, these variations often go undiagnosed in routine genetic screening …
rare disorders. However, these variations often go undiagnosed in routine genetic screening …
Low mutation rate but high male-bias in the germline of a short-lived opossum
Age and sex have been found to be important determinants of the mutation rate per
generation in mammals, but the mechanisms underlying these factors are still unclear. One …
generation in mammals, but the mechanisms underlying these factors are still unclear. One …
de novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project
JK Ng, P Vats, E Fritz-Waters, S Sarkar, EI Sams… - bioRxiv, 2021 - biorxiv.org
Detection of de novo variants (DNVs) is critical for studies of disease-related variation and
mutation rates. We developed a GPU-based workflow to rapidly call DNVs (HAT) and …
mutation rates. We developed a GPU-based workflow to rapidly call DNVs (HAT) and …
Complex de novo structural variants are an underestimated cause of rare disorders
Complex de novo structural variants (dnSVs) are crucial genetic factors in rare disorders, yet
their prevalence and characteristics in rare disorders remain poorly understood. Here, we …
their prevalence and characteristics in rare disorders remain poorly understood. Here, we …
Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling
F Lecoquierre, N Drouot, S Coutant, O Quenez… - 2024 - researchsquare.com
Background: De novo mutations (DNMs) significantly impact health, particularly through
developmental disorders. DNMs occur in both paternal and maternal germlines via diverse …
developmental disorders. DNMs occur in both paternal and maternal germlines via diverse …