Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: IAB NA12878 iterations

PROVIDER: PRJNA1008349 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other
	SRR25735653_1.fastq.gz	Fastqsanger.gz
	SRR25735653_2.fastq.gz	Fastqsanger.gz
	SRR25735654_1.fastq.gz	Fastqsanger.gz
	SRR25735654_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 11

Similar Datasets

Comparison of Agilent SureSelect Focussed Exome and TruSight One Mendeliome sequencing kits using NA12878 trio DNA

Project description:A technical comparison of Agilent SureSelect Focussed Exome and TruSight One Mendeliome sequencing kits, by triplicate sequencing of the cell line DNA of NA12878, NA12891, NA12892 and NIST RM8395

2019-09-20 | E-MTAB-8349 | biostudies-arrayexpress

Project description:WGS sequencing of NA12878

| PRJNA543552 | ENA

Homo sapiens

Project description:NA12878 Fosmid pool sequence

| PRJNA196488 | ENA

Project description:NA12878 AmpliSeq Exome Sequencing

| PRJNA390249 | ENA

Germline Copy Number Variants are Associated with Methylation Variation in the Genome

Project description:Illumina methylation 27 array (Illumina) analysis was performed on 24 HapMap individuals including one CEU trio (family 1463 including NA12878, NA12891, NA12892) and one YRI trio (family Y117 including NA19240, NA19238, NA19239)

2020-10-05 | GSE114131 | GEO

Evaluation of copy number variation detection between high-resolution array CGH and low-coverage short-insert and mate-pair whole-genome sequencing

Project description:In principle, whole-genome sequencing (WGS) of the human genome even at low coverage offers higher resolution for genomic copy number variation (CNV) detection compared to array-based technologies, which is currently the first-tier approach in clinical cytogenetics. There are, however, obstacles in replacing array-based CNV detection with that of low-coverage WGS such as cost, turnaround time, and lack of systematic performance comparisons. With technological advances in WGS in terms of library preparation, instrument platforms, and data analysis algorithms, obstacles imposed by cost and turnaround time are fading. However, a systematic performance comparison between array and low-coverage WGS-based CNV detection has yet to be performed. Here, we compared the CNV detection capabilities between WGS (short-insert, 3kb-, and 5kb-mate-pair libraries) at 1X, 3X, and 5X coverages and standardly used high-resolution arrays in the genome of 1000-Genomes-Project CEU genome NA12878. CNV detection was performed using standard analysis methods, and the results were then compared to a list of Gold Standard NA12878 CNVs distilled from the 1000-Genomes Project. Overall, low-coverage WGS is able to detect drastically more (approximately 5 fold more on average) Gold Standard CNVs compared to arrays and is accompanied with fewer CNV calls without secondary validation. Furthermore, we also show that WGS (at ≥1X coverage) is able to detect all seven validated deletions larger than 100 kb in the NA12878 genome whereas only one of such deletions is detected in most arrays. Finally, we show that the much larger 15 Mbp Cri-du-chat deletion can be clearly seen at even 1X coverage from short-insert WGS.

2018-06-26 | GSE105092 | GEO

Project description:OP-Strand-seq NA12878 libraries

| PRJNA742746 | ENA

NA12878 sequence data from McCarthy/McVean/Lunter

Project description:Sequencing of Hapmap individual NA12878

| PRJEB2483 | ENA

Project description:TruSeq Synthetic Long-Reads for NA12878

| PRJEB11299 | ENA

Homo sapiens strain:NA12878

Project description:Homo sapiens NA12878 genome sequencing project

| PRJNA59877 | ENA