| 1. |
- Fang, Li Tai, et al.
(författare)
-
Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing
- 2021
-
Ingår i: Nature Biotechnology. - : Springer Nature. - 1087-0156 .- 1546-1696. ; 39:9, s. 1151-1160
-
Tidskriftsartikel (refereegranskat)abstract
- Tumor-normal paired DNA samples from a breast cancer cell line and a matched lymphoblastoid cell line enable calibration of clinical sequencing pipelines and benchmarking 'tumor-only' or 'matched tumor-normal' analyses. The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics. Here, we describe reference call sets obtained from paired tumor-normal genomic DNA (gDNA) samples derived from a breast cancer cell line-which is highly heterogeneous, with an aneuploid genome, and enriched in somatic alterations-and a matched lymphoblastoid cell line. We partially validated both somatic mutations and germline variants in these call sets via whole-exome sequencing (WES) with different sequencing platforms and targeted sequencing with >2,000-fold coverage, spanning 82% of genomic regions with high confidence. Although the gDNA reference samples are not representative of primary cancer cells from a clinical sample, when setting up a sequencing pipeline, they not only minimize potential biases from technologies, assays and informatics but also provide a unique resource for benchmarking 'tumor-only' or 'matched tumor-normal' analyses.
|
|
| 2. |
- Song, Yi, et al.
(författare)
-
National trends in stunting, thinness and overweight among Chinese school-aged children, 1985–2014
- 2019
-
Ingår i: International Journal of Obesity. - : Springer Science and Business Media LLC. - 0307-0565 .- 1476-5497. ; , s. 402-411
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: We sought to examine changes in regional and sex disparities in stunting, thinness, and overweight among Chinese school-aged children from 1985 to 2014. Methods: We analyzed data on 1,489,953 children aged 7–18 years in the Chinese National Survey on Students’ Constitution and Health. Stunting, thinness, and overweight were defined according to WHO anthropomorphic definitions. After adjustment for age, socioeconomic status, and school, logistic regression was used to estimate the prevalence of stunting, thinness, and overweight by region and sex over 30 years’ time. Results: From 1985 to 2014, the prevalence of stunting progressively decreased from 16.4% in 1985 to 2.3% in 2014, thinness prevalence also declined overtime, from 8.4 to 4.0% and overweight prevalence continually increased from 1.1% in 1985 to 20.4% in 2014 in Chinese school-aged children. Stunting and thinness were more common in rural areas, although urban/rural differences declined over time. Overweight was a greater problem in urban than rural areas, and this difference increased over time. Some provinces showed high levels of stunting, thinness, and overweight. The stunting prevalence of boys was higher than girls from 1985 and 1995, but lower than girls for the past 15 years. Thinness was consistently more common in boys than girls across regions and time. Overweight continuously increased for boys and girls; however, the increase was more rapid in boys. Conclusions: Over the past 30 years, Chinese children have shifted in anthropomorphic measures indicating a shift from problems of under-nutrition to measures consistent with over-nutrition, particularly in urban areas and among boys. Some regions are burdened by problems of both under- and over-nutrition. Regional and sex-specific guidelines and public health policies for childhood nutrition are needed in China.
|
|
