Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

अन्य संस्करण दिखाएं (1)

High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Rimmer, A, Phan, H, Mathieson, I, Iqbal, Z, Twigg, SR, Wilkie, A, McVean, G, Lunter, G
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	Nature Publishing Group 2014

समान संसाधन

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
द्वारा: Rimmer, A, और अन्य
प्रकाशित: (2014)

Differential confounding of rare and common variants in spatially structured populations
द्वारा: Mathieson, I, और अन्य
प्रकाशित: (2012)

Differential confounding of rare and common variants in spatially structured populations.
द्वारा: Mathieson, I, और अन्य
प्रकाशित: (2012)

A Bos taurus sequencing methods benchmark for assembly, haplotyping, and variant calling
द्वारा: Camille Eché, और अन्य
प्रकाशित: (2023-06-01)

Demography and the age of rare variants.
द्वारा: Iain Mathieson, और अन्य
प्रकाशित: (2014-08-01)

Reply to: "FaST-LMM-Select for addressing confounding from spatial structure and rare variants".
द्वारा: Mathieson, I, और अन्य
प्रकाशित: (2013)

THE LIMITATIONS OF VARIANT CALLING ALGORITHMS FOR CLASSICAL HLA GENES FROM WHOLE GENOME SEQUENCE DATA
द्वारा: Cox, C, और अन्य
प्रकाशित: (2012)

The variant call format and VCFtools.
द्वारा: Danecek, P, और अन्य
प्रकाशित: (2011)

De novo assembly and genotyping of variants using colored de Bruijn graphs
द्वारा: Iqbal, Z, और अन्य
प्रकाशित: (2012)

De novo assembly and genotyping of variants using colored de Bruijn graphs.
द्वारा: Iqbal, Z, और अन्य
प्रकाशित: (2012)

Dindel: accurate indel calls from short-read data.
द्वारा: Albers, C, और अन्य
प्रकाशित: (2011)

Estimating Selection Coefficients in Spatially Structured Populations from Time Series Data of Allele Frequencies
द्वारा: Mathieson, I, और अन्य
प्रकाशित: (2013)

Estimating selection coefficients in spatially structured populations from time series data of allele frequencies.
द्वारा: Mathieson, I, और अन्य
प्रकाशित: (2013)

A comparison of structural variant calling from short-read and nanopore-based whole-genome sequencing using optical genome mapping as a benchmark
द्वारा: Pei, Y, और अन्य
प्रकाशित: (2024)

Dating genomic variants and shared ancestry in population-scale sequencing data.
द्वारा: Patrick K Albers, और अन्य
प्रकाशित: (2020-01-01)

HapKled: a haplotype-aware structural variant calling approach for Oxford nanopore sequencing data
द्वारा: Zhendong Zhang, और अन्य
प्रकाशित: (2024-07-01)

Haplotype matching in large cohorts using the Li and Stephens model
द्वारा: Lunter, G
प्रकाशित: (2018)

SNP SCREENING FOR HLA HAPLOTYPES RELEVANT IN ESTABLISHING A HUMAN PLURIPOTENT STEM CELL DERIVED CELL BANK
द्वारा: Robertson, V, और अन्य
प्रकाशित: (2012)

Efficient Sequencing, Assembly, and Annotation of Human KIR Haplotypes
द्वारा: David Roe, और अन्य
प्रकाशित: (2020-10-01)

Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet
द्वारा: Peng Jia, और अन्य
प्रकाशित: (2023-12-01)

Screening for recently selected alleles by analysis of human haplotype similarity.
द्वारा: Hanchard, N, और अन्य
प्रकाशित: (2006)

Selfish mutations in Spermatogenesis and paternal age effects
द्वारा: Wilkie, A, और अन्य
प्रकाशित: (2010)

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold.
द्वारा: Menelaou, A, और अन्य
प्रकाशित: (2013)

TT-Mars: structural variants assessment based on haplotype-resolved assemblies
द्वारा: Jianzhi Yang, और अन्य
प्रकाशित: (2022-05-01)

Perspectives on human genetic variation from the HapMap Project.
द्वारा: McVean, G, और अन्य
प्रकाशित: (2005)

Perspectives on human genetic variation from the HapMap project
द्वारा: McVean, G, और अन्य
प्रकाशित: (2005)

A natural encoding of genetic variation in a Burrows-Wheeler Transform to enable mapping and genome inference
द्वारा: Iqbal, Z, और अन्य
प्रकाशित: (2016)

A natural encoding of genetic variation in a Burrows-Wheeler Transform to enable mapping and genome inference
द्वारा: Iqbal, Z, और अन्य
प्रकाशित: (2016)

The evaluation of Bcftools mpileup and GATK HaplotypeCaller for variant calling in non-human species
द्वारा: Messaoud Lefouili, और अन्य
प्रकाशित: (2022-07-01)

Optimized Next-Generation Sequencing Genotype-Haplotype Calling for Genome Variability Analysis
द्वारा: Javier Navarro, और अन्य
प्रकाशित: (2017-08-01)

A coalescent-based method for detecting and estimating recombination from gene sequences.
द्वारा: McVean, G, और अन्य
प्रकाशित: (2002)

A fine-scale chimpanzee genetic map from population sequencing.
द्वारा: Auton, A, और अन्य
प्रकाशित: (2012)

A fine-scale chimpanzee genetic map from population sequencing.
द्वारा: Auton, A, और अन्य
प्रकाशित: (2012)

Genome-wide sequencing and gene expression QTL mapping in the Goto-Kakizaki rat identify Ascl3 as a regulator of adipocyte function
द्वारा: Dubois, S, और अन्य
प्रकाशित: (2011)

High-accuracy HLA type inference from whole-genome sequencing data using population reference graphs
द्वारा: Dilthey, A, और अन्य
प्रकाशित: (2016)

Corrigendum to “Optimized Next-Generation Sequencing Genotype-Haplotype Calling for Genome Variability Analysis”
प्रकाशित: (2022-03-01)

Increasing calling accuracy, coverage, and read-depth in sequence data by the use of haplotype blocks.
द्वारा: Torsten Pook, और अन्य
प्रकाशित: (2021-12-01)

The structure of linkage disequilibrium around a selective sweep.
द्वारा: McVean, G
प्रकाशित: (2007)

Evolutionary genetics: what is driving male mutation?
द्वारा: McVean, G
प्रकाशित: (2000)

What drives recombination hotspots to repeat DNA in humans?
द्वारा: McVean, G
प्रकाशित: (2010)