Phasing for medical sequencing using rare variants and large haplotype reference panels

Phasing for medical sequencing using rare variants and large haplotype reference panels

<br xmlns:etd="http://www.ouls.ox.ac.uk/ora/modsextensions"><strong>Motivation: </strong>There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datas...

Full description

Bibliographic Details
Main Authors:	Sharp, K, Kretzschmar, W, Delaneau, O, Marchini, J
Format:	Journal article
Published:	Oxford University Press 2016

Similar Items

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
by: Delaneau, O, et al.
Published: (2014)

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
by: Huang, J, et al.
Published: (2015)

A reference panel of 64,976 haplotypes for genotype imputation
by: Kretzschmar, W, et al.
Published: (2016)

Haplotype estimation using sequencing reads.
by: Delaneau, O, et al.
Published: (2013)

Reference-based phasing using the Haplotype Reference Consortium panel
by: Loh, P, et al.
Published: (2016)

Haplotype estimation for biobank-scale data sets
by: O'Connell, J, et al.
Published: (2016)

Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold.
by: Menelaou, A, et al.
Published: (2013)

A linear complexity phasing method for thousands of genomes
by: Delaneau, O, et al.
Published: (2012)

A linear complexity phasing method for thousands of genomes.
by: Delaneau, O, et al.
Published: (2012)

Improved whole-chromosome phasing for disease and population genetic studies.
by: Delaneau, O, et al.
Published: (2013)

NARD : whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
by: Yoo, Seong-Keun, et al.
Published: (2020)

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
by: Sazonovs, A, et al.
Published: (2022)

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
by: Rimmer, A, et al.
Published: (2014)

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
by: Rimmer, A, et al.
Published: (2014)

A general approach for haplotype phasing across the full spectrum of relatedness
by: O'Connell, J, et al.
Published: (2014)

A high-resolution haplotype-resolved reference panel constructed from the China Kadoorie Biobank Study
by: Yu, C, et al.
Published: (2023)

Rapid genotype imputation from sequence with reference panels
by: Davies, RW, et al.
Published: (2021)

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
by: Mitt, Mario, et al.
Published: (2018)

Reply to Reeves et al.: No evidence for rare ERAP1 haplotypes and haplotype combinations in ankylosing spondylitis
by: Wordsworth, B, et al.
Published: (2017)

Rapid genotype imputation from sequence without reference panels
by: Myers, S, et al.
Published: (2016)

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels
by: Tin, A, et al.
Published: (2018)

Multiway Admixture Deconvolution Using Phased or Unphased Ancestral Panels
by: Churchhouse, C, et al.
Published: (2013)

Multiway admixture deconvolution using phased or unphased ancestral panels.
by: Churchhouse, C, et al.
Published: (2013)

The sequence and characterisation of ?-globin haplotypes in human populations
by: Norwich, J
Published: (1996)

Methods for phasing and imputation of very low coverage sequencing data
by: Kretzschmar, WW
Published: (2016)

Rare genetic variants and the risk of cancer.
by: Bodmer, W, et al.
Published: (2010)

Large-scale Genome-wide Association Meta-analysis Using Imputation from 2188-haplotype 1000 Genomes Reference Panel Identifies Novel Susceptibility Loci for Anthropometric and Glycemic Traits
by: Magi, R, et al.
Published: (2012)

ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data.
by: Asimit, J, et al.
Published: (2012)

Variants and haplotypes of the angiotensinogen gene are associated with hypertension in the Caerphilly Prospective Study
by: Xue, M, et al.
Published: (2005)

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
by: Lange, L, et al.
Published: (2014)

Y chromosome haplotypes in Central-South Italy: implication for reference database.
by: Rapone, C, et al.
Published: (2007)

Genome sequence, comparative analysis and haplotype structure of the domestic dog.
by: Lindblad-Toh, K, et al.
Published: (2005)

A rare variant of knee dislocation
by: Hussin, Paisal, et al.
Published: (2016)

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus.
by: Dodd, A, et al.
Published: (2011)

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus
by: Dodd, A, et al.
Published: (2011)

Common or rare variants for complex traits?
by: Munafò, MR, et al.
Published: (2014)

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
by: Pagnamenta, AT, et al.
Published: (2023)

Common and rare variants in multifactorial susceptibility to common diseases.
by: Bodmer, W, et al.
Published: (2008)

Exome sequencing analysis identifies rare variants in ATM and RPL8 that are associated with shorter telomere length
by: van der Spek, A, et al.
Published: (2020)

Pooled sequencing and rare variant association tests for identifying the determinants of emerging drug resistance in malaria parasites.
by: Cheeseman, I, et al.
Published: (2014)