Plant pan-genomes are the new reference
Recent years have seen a surge in plant genome sequencing projects and the comparison
of multiple related individuals. The high degree of genomic variation observed led to the …
of multiple related individuals. The high degree of genomic variation observed led to the …
Enhancer redundancy in development and disease
Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that
regulate the same gene and drive overlapping expression patterns. Recent studies have …
regulate the same gene and drive overlapping expression patterns. Recent studies have …
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 …
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 …
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 …
Structural variation in the 3D genome
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
Pan-genomics in the human genome era
RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …
'reference'genome for each species, which is used as the basis for a wide range of genetic …
Enhancer redundancy provides phenotypic robustness in mammalian development
M Osterwalder, I Barozzi, V Tissières… - Nature, 2018 - nature.com
Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber
protein-coding genes in mammalian genomes, but the functional importance of this …
protein-coding genes in mammalian genomes, but the functional importance of this …
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
AP Tenney, SA Di Gioia, BD Webb, WM Chan… - Nature …, 2023 - nature.com
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …
Assembly of a pan-genome from deep sequencing of 910 humans of African descent
We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct
a set of DNA sequences that is present in these individuals but missing from the reference …
a set of DNA sequences that is present in these individuals but missing from the reference …