Orli G Bahcall
Orli G Bahcall
Nicolas Dussex,Tom van der Valk,Hernán E Morales et al.
Nicolas Dussex et al.
The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago, only 201 individuals remain today, most of them descending from an isolated island population. We report the first genome-wide analyses of the spec...
Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method [0.03%]
基于深度测序和高分辨率的基因型填充方法解析杀伤细胞免疫球蛋白样受体多样性
Saori Sakaue,Kazuyoshi Hosomichi,Jun Hirata et al.
Saori Sakaue et al.
The killer cell immunoglobulin-like receptor (KIR) recognizes human leukocyte antigen (HLA) class I molecules and modulates the function of natural killer cells. Despite its role in immunity, the complex genomic structure has limited a deep...
Huiwen Che,Bernard Thienpont
Huiwen Che
Epigenetic modifications to DNA and chromatin interact to influence gene expression and cellular phenotypes, but defining these omics layers in complex tissues is a daunting task. In this issue of Cell Genomics, Luo et al. describe a novel ...
Reconstructing mutational lineages in breast cancer by multi-patient-targeted single-cell DNA sequencing [0.03%]
通过多病人靶向单细胞DNA测序在乳腺癌中重建突变系谱
Jake Leighton,Min Hu,Emi Sei et al.
Jake Leighton et al.
Single-cell DNA sequencing (scDNA-seq) methods are powerful tools for profiling mutations in cancer cells; however, most genomic regions sequenced in single cells are non-informative. To overcome this issue, we developed a multi-patient-tar...
A R Thierry
A R Thierry
The high fragmentation of nuclear circulating DNA (cirDNA) relies on chromatin organization and protection or packaging within mononucleosomes, the smallest and the most stabilized structure in the bloodstream. The detection of differing si...
Parent-of-origin detection and chromosome-scale haplotyping using long-read DNA methylation sequencing and Strand-seq [0.03%]
基于长读长DNA甲基化测序和Strand-seq的亲本来源识别及染色体规模单倍型分析
Vahid Akbari,Vincent C T Hanlon,Kieran O&#x;Neill et al.
Vahid Akbari et al.
Hundreds of loci in human genomes have alleles that are methylated differentially according to their parent of origin. These imprinted loci generally show little variation across tissues, individuals, and populations. We show that such loci...
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population [0.03%]
利用代谢组学、蛋白质组学和全基因组测序在近亲婚配人群中鉴定类似PCSK9的人类基因敲除
Aziz Belkadi,Gaurav Thareja,Fatemeh Abbaszadeh et al.
Aziz Belkadi et al.
Natural human knockouts of genes associated with desirable outcomes, such as PCSK9 with low levels of LDL-cholesterol, can lead to the discovery of new drug targets and treatments. Rare loss-of-function variants are more likely to be found ...
Genomic characterization and therapeutic utilization of IL-13-responsive sequences in asthma [0.03%]
哮喘中IL-13反应序列的基因组特征及治疗应用
Kyung Duk Koh,Luke R Bonser,Walter L Eckalbar et al.
Kyung Duk Koh et al.
Epithelial responses to the cytokine interleukin-13 (IL-13) cause airway obstruction in asthma. Here we utilized multiple genomic techniques to identify IL-13-responsive regulatory elements in bronchial epithelial cells and used these data ...
The landscape of expression and alternative splicing variation across human traits [0.03%]
人类性状外显子景观及可变剪接变异特征分析
Raquel García-Pérez,Jose Miguel Ramirez,Aida Ripoll-Cladellas et al.
Raquel García-Pérez et al.
Understanding the consequences of individual transcriptome variation is fundamental to deciphering human biology and disease. We implement a statistical framework to quantify the contributions of 21 individual traits as drivers of gene expr...