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Highly accurate long reads are crucial for realizing the potential of biodiversity genomics.
Publication Type: Academic Journal
Source(s): BMC genomics [BMC Genomics] 2023 Mar 16; Vol. 24 (1), pp. 117. Date of Electronic Publication: 2023 Mar 16.
Abstract: Background: Generating the most contiguous, accurate genome assemblies given available sequencing technologies is a long-standing challenge in genome science. With the rise of long-read sequencing, assembly challenges have shifted from merely increasin...
DNA Sequencing to Detect Residual Disease in Adults With Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant.
Publication Type: Academic Journal
Source(s): JAMA [JAMA] 2023 Mar 07; Vol. 329 (9), pp. 745-755.
Abstract: Importance: Preventing relapse for adults with acute myeloid leukemia (AML) in first remission is the most common indication for allogeneic hematopoietic cell transplant. The presence of AML measurable residual disease (MRD) has been associated with hi...
Scalable Combinatorial Assembly of Synthetic DNA for Tracking Applications.
Publication Type: Academic Journal
Source(s): International journal of molecular sciences [Int J Mol Sci] 2023 Jan 29; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 29.
Abstract: Synthetic DNA barcodes are double-stranded DNA molecules designed to carry recoverable information, information that can be used to represent and track objects and organisms. DNA barcodes offer robust, sensitive detection using standard amplification a...
Using unique molecular identifiers to improve allele calling in low-template mixtures.
Publication Type: Academic Journal
Source(s): Forensic science international. Genetics [Forensic Sci Int Genet] 2023 Mar; Vol. 63, pp. 102807. Date of Electronic Publication: 2022 Nov 24.
Abstract: PCR artifacts are an ever-present challenge in sequencing applications. These artifacts can seriously limit the analysis and interpretation of low-template samples and mixtures, especially with respect to a minor contributor. In medicine, molecular bar...
Methodological Changes in the Field of Paleogenetics.
Publication Type: Academic Journal
Source(s): Genes [Genes (Basel)] 2023 Jan 16; Vol. 14 (1). Date of Electronic Publication: 2023 Jan 16.
Abstract: Paleogenetics has significantly changed since its inception almost forty years ago. Initially, molecular techniques available to the researchers offered minimal possibilities for ancient DNA analysis. The subsequent expansion of the scientific tool cab...
sgcocaller and comapr: personalised haplotype assembly and comparative crossover map analysis using single-gamete sequencing data.
Publication Type: Academic Journal
Source(s): Nucleic acids research [Nucleic Acids Res] 2022 Nov 11; Vol. 50 (20), pp. e118.
Abstract: Profiling gametes of an individual enables the construction of personalised haplotypes and meiotic crossover landscapes, now achievable at larger scale than ever through the availability of high-throughput single-cell sequencing technologies. However, ...
Innovative technologies crowd the short-read sequencing market.
Publication Type: Academic Journal
Source(s): Nature [Nature] 2023 Feb; Vol. 614 (7949), pp. 798-800.
De novo sequencing, diploid assembly, and annotation of the black carpenter ant, Camponotus pennsylvanicus, and its symbionts by one person for $1000, using nanopore sequencing.
Publication Type: Academic Journal
Source(s): Nucleic acids research [Nucleic Acids Res] 2023 Jan 11; Vol. 51 (1), pp. 17-28.
Abstract: The black carpenter ant (Camponotus pennsylvanicus) is a pest species found widely throughout North America. From a single individual I used long-read nanopore sequencing to assemble a phased diploid genome of 306 Mb and 60X coverage, with quality asse...
Forensic evaluation of mitochondrial DNA heteroplasmy in Gujarat population, India.
Publication Type: Academic Journal
Source(s): Annals of human biology [Ann Hum Biol] 2022 Dec; Vol. 49 (7-8), pp. 332-341. Date of Electronic Publication: 2022 Nov 18.
Abstract: Background: Owing to its high copy number and its small size, mtDNA analysis is the most reliable choice when biological materials from crime scenes are degraded or have mixed STR profiles.Aim: To examine the occurrence of heteroplasmy along with its f...