Publications by authors named "Gage H Garcia"
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.
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- The study presents detailed genomes of six ape species, achieving high accuracy and complete sequencing of all their chromosomes.
- It addresses complex genomic regions, leading to enhanced understanding of evolutionary relationships among these species.
- The findings will serve as a crucial resource for future research on human evolution and our closest ape relatives.
Segmental duplications (SDs) contribute significantly to human disease, evolution, and diversity yet have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies where the majority of SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms, we identify 173.
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- Apes have two sex chromosomes: the essential Y chromosome for male reproduction and the X chromosome necessary for both reproduction and cognition, with differences in mating patterns affecting their function.
- Studying these chromosomes is challenging due to their repetitive structures, but researchers created gapless assemblies for five great apes and one lesser ape to explore their evolutionary complexities.
- The Y chromosomes are highly variable and undergo significant changes compared to the more stable X chromosomes, and this research can provide insights into human evolution and aid in the conservation of endangered ape species.
Article Synopsis
- Apes have two main sex chromosomes, X and Y, where Y is crucial for male reproduction and its deletions can lead to infertility, while X is important for both reproduction and brain function.
- Recent advancements in genomic techniques helped researchers create complete structures of the X and Y chromosomes for multiple great ape species, allowing them to explore their evolutionary complexities.
- Findings indicate that Y chromosomes are highly variable and undergo rapid changes due to unique genetic regions and transposable elements, while X chromosomes are more stable, highlighting differing evolutionary paths among great ape species.