Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs)

Y-chromosomal microdeletion (YCM) serves as an important genetic factor in non-obstructive azoospermia (NOA). Multiplex polymerase chain reaction (PCR) is routinely used to detect YCMs by tracing sequence-tagged sites (STSs) in the Y chromosome. Here we introduce a novel methodology in which we sequence 1,787 (post-filtering) STSs distributed across the entire male-specific Y chromosome (MSY) in parallel to uncover known and novel YCMs. We validated this approach with 766 Chinese men with NOA and 683 ethnically matched healthy individuals and detected 481 and 98 STSs that were deleted in the NOA and control group, representing a substantial portion of novel YCMs which significantly influenced the functions of spermatogenic genes. The NOA patients tended to carry more and rarer deletions that were enriched in nearby intragenic regions. Haplogroup O2* was revealed to be a protective lineage for NOA, in which the enrichment of b1/b3 deletion in haplogroup C was also observed. In summary, our work provides a new high-resolution portrait of deletions in the Y chromosome.National Key Scientific Program of China [2011CB944303]; National Nature Science Foundation of China [31271244, 31471344]; Promotion Program for Shenzhen Key Laboratory [CXB201104220045A]; Shenzhen Project of Science and Technology [JCYJ20130402113131202, JCYJ20140415162543017]SCI(E)[email protected]; [email protected]; [email protected]

Additional file 1: Figure S1: of An optimized protocol for generation and analysis of Ion Proton sequencing reads for RNA-Seq

The number of reads by read length in (A) the eleven Proton libraries. The peaks of read length of ProC libraries were around 150 ~ 200 bp, whilst around 90 bp for ProR libraries. (B) Insert sizes of the two HiSeq libraries, calculated by the distance between pair-end reads. (PDF 2520 kb

Additional file 6: of An optimized protocol for generation and analysis of Ion Proton sequencing reads for RNA-Seq

Supplementary Method. The files and commands used in the study. (DOCX 19 kb

The analysis of vibration response of air-cooled refrigerator excited by reciprocating compressor

The features of large-capacity and multi temperature zones of air-cooled refrigerators are favored by consumers. However, the vibration of different components caused by the vibrations of different components in the operation process brings certain troubles to people's lives. In order to achieve better vibration and noise reduction of the refrigerator, the vibration characteristics of the air-cooled refrigerator are analyzed under the excitation of compressor, selects four detection points, and uses simulation methods to obtain the excitation of the compressor. In addition to the impact of the vibration source on the refrigerator, the assembly of refrigerator door is also an important factor of the refrigerator vibration. The experimental process has also found that the air-cooled system also has an impact on the vibration and noise generation of the refrigerator

Additional file 3: Figure S3. of An optimized protocol for generation and analysis of Ion Proton sequencing reads for RNA-Seq

(A) Comparison of RNaseIII fragment (ProR), medial insert size (166 bp, ProC_insertM), long insert size (215 bp, ProC_insertL), low initial RNA input (200 ng, ProC_lowinput), and HiSeq with single-end, and pair-end sequencing libraries in gene detection and expression quantification accuracy. Y axis on the left is the number of detected genes, y axis on the right is the Spearman correlation with TaqMan result. All libraries manifest high quantification consistency with TaqMan, pair-end HiSeq library detected 1000 more genes than other libraries. (B) Comparison of libraries in junction detection. All libraries detected more than 120,000 junctions. (C-E) Comparison of detected gene number (C), consistency with TaqMan result (D) and junction discovery (E) by different methods. (PDF 6708 kb

Additional file 2: Figure S2. of An optimized protocol for generation and analysis of Ion Proton sequencing reads for RNA-Seq

Mean read quality distribution. The shade of color (from grey to blue to black) represents the density (percentage) of read with certain mean quality. The reads of highest mean quality were around 120 ~ 160 bp long in ProC libraries, whist for ProR libraries the reads mean quality remained high until 150 bp, where the quality began to deteriorate. (PDF 6020 kb

Additional file 5: Figure S5. of An optimized protocol for generation and analysis of Ion Proton sequencing reads for RNA-Seq

Comparison of gene expression estimate method by HTSeq and CuffDiff in terms of (A) detected gene number, and (B) consistency with TaqMan result. (PDF 2185 kb

The analysis of vibration response of air-cooled refrigerator excited by reciprocating compressor

The features of large-capacity and multi temperature zones of air-cooled refrigerators are favored by consumers. However, the vibration of different components caused by the vibrations of different components in the operation process brings certain troubles to people's lives. In order to achieve better vibration and noise reduction of the refrigerator, the vibration characteristics of the air-cooled refrigerator are analyzed under the excitation of compressor, selects four detection points, and uses simulation methods to obtain the excitation of the compressor. In addition to the impact of the vibration source on the refrigerator, the assembly of refrigerator door is also an important factor of the refrigerator vibration. The experimental process has also found that the air-cooled system also has an impact on the vibration and noise generation of the refrigerator