4.4 Article

Enhanced mixture interpretation with macrohaplotypes based on long-read DNA sequencing

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemical Research Methods

High-accuracy long-read amplicon sequences using unique molecular identifiers with Nanopore or PacBio sequencing

Soren M. Karst et al.

Summary: High-throughput amplicon sequencing of large genomic regions remains challenging for short-read technologies. Here, a new approach combining unique molecular identifiers (UMIs) with Oxford Nanopore Technologies (ONT) or Pacific Biosciences circular consensus sequencing was reported, achieving high-accuracy single-molecule consensus sequences. The method was successfully applied to sequence ribosomal RNA operon amplicons and genomic sequences of microbial communities, showing a very low chimera rate.

NATURE METHODS (2021)

Article Multidisciplinary Sciences

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun et al.

Summary: The TOPMed program aims to study the genetic architecture and biology of heart, lung, blood, and sleep disorders to improve diagnosis, treatment, and prevention of these diseases. Resources include a variant browser, genotype imputation server, and genomic and phenotypic data available through dbGaP. The study detected a large number of rare genetic variants, providing insights into mutation processes and recent human evolutionary history.

NATURE (2021)

Review Genetics & Heredity

Human short tandem repeat identification using a nanopore-based DNA sequencer: a pilot study

Minoru Asogawa et al.

JOURNAL OF HUMAN GENETICS (2020)

Article Genetics & Heredity

Analyzing population structure for forensic STR markers in next generation sequencing data

Sanne E. Aalbers et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2020)

Review Genetics & Heredity

Long-read sequencing in deciphering human genetics to a greater depth

Mohit K. Midha et al.

HUMAN GENETICS (2019)

Article Biochemistry & Molecular Biology

A set of 14 DIP-SNP markers to detect unbalanced DNA mixtures

Zhizhen Liu et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2018)

Article Genetics & Heredity

The devil's in the detail: Release of an expanded, enhanced and dynamically revised forensic STR Sequence Guide

C. Phillips et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2018)

Article Genetics & Heredity

A One-Penny Imputed Genome from Next-Generation Reference Panels

Brian L. Browning et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Multidisciplinary Sciences

A reference haplotype panel for genome-wide imputation of short tandem repeats

Shubham Saini et al.

NATURE COMMUNICATIONS (2018)

Article Genetics & Heredity

Evaluating 130 microhaplotypes across a global set of 83 populations

Kenneth K. Kidd et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2017)

Article Biochemical Research Methods

Genome-wide profiling of heritable and de novo STR variations

Thomas Willems et al.

NATURE METHODS (2017)

Article Multidisciplinary Sciences

Ror2 signaling regulates Golgi structure and transport through IFT20 for tumor invasiveness

Michiru Nishita et al.

SCIENTIFIC REPORTS (2017)

Article Genetics & Heredity

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes

Haibao Tang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Characterization of genetic sequence variation of 58 STR loci in four major population groups

Nicole M. M. Novroski et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2016)

Article Genetics & Heredity

Developmental validation of STRmix™, expert software for the interpretation of forensic DNA profiles

Jo-Anne Bright et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2016)

Article Genetics & Heredity

SNP-microarrays can accurately identify the presence of an individual in complex forensic DNA mixtures

Lev Voskoboinik et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2015)

Article Genetics & Heredity

Next generation sequencing and its applications in forensic genetics

Claus Borsting et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2015)

Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

Article Genetics & Heredity

The open-source software LRmix can be used to analyse SNP mixtures

Peter Gill et al.

FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES (2015)

Article Genetics & Heredity

Development of a SNP-STRs multiplex for forensic identification

L. Wang et al.

FORENSIC SCIENCE INTERNATIONAL GENETICS SUPPLEMENT SERIES (2015)

Article Genetics & Heredity

Criteria for selecting microhaplotypes: mixture detection and deconvolution

Kenneth K. Kidd et al.

INVESTIGATIVE GENETICS (2015)

Article Genetics & Heredity

DIP-STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures

Vincent Castella et al.

HUMAN MUTATION (2013)

Article Genetics & Heredity

Complex mixtures: A critical examination of a paper by Homer et al.

Thore Egeland et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2012)

Article Genetics & Heredity

Evaluation of three DNA extraction protocols for forensic STR typing after laser capture microdissection

Mado Vandewoestyne et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2012)

Article Genetics & Heredity

Forensic STR analysis using massive parallel sequencing

Christophe Van Neste et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2012)

Article Genetics & Heredity

Forensic identification of an individual in complex DNA mixtures

Lev Voskoboinik et al.

FORENSIC SCIENCE INTERNATIONAL-GENETICS (2011)

Article Medicine, Legal

Validating TrueAllele® DNA Mixture Interpretation

Mark W. Perlin et al.

JOURNAL OF FORENSIC SCIENCES (2011)

Article Medicine, Legal

Haplotype block: a new type of forensic DNA markers

Jianye Ge et al.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE (2010)

Article Biochemistry & Molecular Biology

Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows

Laurent Excoffier et al.

MOLECULAR ECOLOGY RESOURCES (2010)

Review Biochemical Research Methods

Forensically relevant SNP classes

Bruce Budowle et al.

BIOTECHNIQUES (2008)

Article Medicine, Legal

Enhanced elution of sperm from cotton swabs via enzymatic digestion for rape kit analysis

JC Voorhees et al.

JOURNAL OF FORENSIC SCIENCES (2006)

Article Genetics & Heredity

Improved inference of relationship for pairs of individuals

MP Epstein et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)