公开(公告)号：EP3055431B1

公开(公告)日：2020-06-24

申请号：EP14852570.2

申请日：2014-09-24

Applicant: STC.UNM

Inventor： EDWARDS, Jeremy Scott

IPC: C12Q1/6853 ,  C12Q1/689

公开(公告)号：EP3055431A1

公开(公告)日：2016-08-17

申请号：EP14852570.2

申请日：2014-09-24

Applicant: STC.UNM

Inventor： EDWARDS, Jeremy Scott

IPC: C12Q1/68

Abstract: The disclosure describes a method for sequencing long portions of DNA sequence by assembling a plurality of shorter polynucleotide reads. Generally, The method includes annealing a plurality of primers to a denatured DNA molecule, appending a barcode polynucleotide to the 5′ end of the primer, subjecting the DNA molecules to a plurality of cycles of (1) pooling, (2) dividing, and (3) appending a barcode polynucleotide to the 5′ end of the primer, sequencing the barcode polynucleotides and the genomic DNA, and assembling the short read polynucleotide sequences having identical barcode polynucleotides.

Abstract translation: 本公开描述了通过组装多个较短的多核苷酸读取来测序DNA序列的长部分的方法。 通常，该方法包括将多个引物退火至变性DNA分子，将条形码多核苷酸附加到引物的5'末端，对DNA分子进行多个周期（1）合并，（2）分裂和 （3）将条形码多核苷酸添加到引物的5'末端，测序条形码多核苷酸和基因组DNA，并组装具有相同条形码多核苷酸的短读多核苷酸序列。

公开(公告)号：WO2020033026A1

公开(公告)日：2020-02-13

申请号：PCT/US2019/033717

申请日：2019-05-23

Applicant: STC.UNM ,  EDWARDS, Jeremy Scott ,  SZAUTER, Paul ,  SINCLAIR, Robert B. ,  DIMMLER, Kirsten

Inventor： EDWARDS, Jeremy Scott ,  SZAUTER, Paul ,  SINCLAIR, Robert B. ,  DIMMLER, Kirsten

IPC: C12Q1/6827 ,  G01N33/48 ,  C07K14/47

Abstract: This disclosure describes detecting four genetically distinct kinds of inherited myopathy in horses, referred to as Polysaccharide Storage Myopathy type 2 (PSSM2), or in some cases as Myofibrillar Myopathy (MFM).