RegionKey

README.md

@@ -24,6 +24,7 @@
 * **[VariantKey Format](#vkformat)**
     * [VariantKey Properties](#vkproperties)
 * [VariantKey Input values](#vkinput)
+* [RegionKey](#regionkey)
 * [Binary file formats for lookup tables](#binaryfiles)
 * [C Library](#clib)
 * [GO Library](#golib)
@@ -365,6 +366,76 @@ The VariantKey is composed of 3 sections arranged in 64 bit:
     String containing a sequence of [nucleotide letters](https://en.wikipedia.org/wiki/Nucleic_acid_notation).
 
 
+<a name="regionkey"></a>
+## RegionKey
+
+This library also includes functions to represent a human genetic region as number.
+
+The RegionKey is composed of 4 sections arranged in 64 bit:
+
+
+```
+    1      8      16      24      32      40      48      56      64
+    |      |       |       |       |       |       |       |       |
+    0123456789012345678901234567890123456789012345678901234567890123
+    CHROM|<------ START POS -------->||<------ END POS -------->|||
+      |               |                           |              |
+      5 bit           28 bit                      28 bit         2 bit STRAND
+```
+
+* **`CHROM`**   : 5 bit to represent the chromosome.
+
+    ```
+    0   4
+    |   |
+    11111000 00000000 00000000 00000000 00000000 00000000 00000000 00000000
+        |
+        LSB
+    ```
+    The chromosome is encoded as in VariantKey.
+
+* **`STARTPOS`** : 28 bit for the region START position.
+
+    ```
+    0    5                             32
+    |    |                              |
+    00000111 11111111 11111111 11111111 10000000 00000000 00000000 00000000
+         |                              |
+        MSB                            LSB
+    ```
+    This section is encoded as in VariantKey POS.
+
+* **`ENDPOS`** : 28 bit for the region END position.
+
+    ```
+    0                                   33                            60
+    |                                    |                             |
+    00000000 00000000 00000000 00000000 01111111 11111111 11111111 11111000
+                                         |                             |
+                                        MSB                           LSB
+    ```
+    The end position is equivalent to (STARTPOS + REGION_LENGTH).
+
+* **`STRAND`** : 2 bit to encode the strand direction.
+
+    ```
+    0                                                                 61  62
+    |                                                                   ||
+    00000000 00000000 00000000 00000000 00000000 00000000 00000000 00000110
+                                                                        ||
+                                                                     MSB  LSB
+    ```
+    The strand direction is encoded as:
+
+    ```
+    -1 : 2 dec = "10" bin
+     0 : 0 dec = "00" bin
+    +1 : 1 dec = "01" bin
+    ```
+
+The last bit of RegionKey is reserved.
+
+
 <a name="binaryfiles"></a>
 ## Binary file formats for lookup tables 
 

VERSION

@@ -1 +1 @@
-2.13.0
+2.14.0

c/src/CMakeLists.txt

@@ -8,7 +8,7 @@ set(CMAKE_RUNTIME_OUTPUT_DIRECTORY ${PROJECT_BINARY_DIR}/lib)
 link_directories( ${CMAKE_CURRENT_BINARY_DIR} )
 include_directories (${CMAKE_CURRENT_BINARY_DIR} ${PROJECT_BINARY_DIR}/src )
 
-add_library (variantkey astring.h astring.c variantkey.h variantkey.c binsearch.h binsearch.c rsidvar.h rsidvar.c nrvk.h nrvk.c genoref.h genoref.c)
+add_library (variantkey astring.h astring.c variantkey.h variantkey.c binsearch.h binsearch.c rsidvar.h rsidvar.c nrvk.h nrvk.c genoref.h genoref.c regionkey.h regionkey.c)
 target_include_directories (variantkey PUBLIC ${CMAKE_CURRENT_SOURCE_DIR})
 
 # Required to link the math library

c/src/astring.c

@@ -30,6 +30,7 @@
 // OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN
 // THE SOFTWARE.
 
+#include <stdio.h>
 #include <string.h>
 #include "astring.h"
 
@@ -48,3 +49,36 @@ void prepend_char(const unsigned char pre, char *string, size_t *size)
     string[0] = pre;
     (*size)++;
 }
+
+size_t hex_uint64_t(uint64_t n, char *str)
+{
+    return sprintf(str, "%016" PRIx64, n);
+}
+
+uint64_t parse_hex_uint64_t(const char *s)
+{
+    uint64_t v = 0;
+    uint8_t b;
+    size_t i;
+    for (i = 0; i < 16; i++)
+    {
+        b = s[i];
+        if (b >= 'a')
+        {
+            b -= ('a' - 10); // a-f
+        }
+        else
+        {
+            if (b >= 'A')
+            {
+                b -= ('A' - 10); // A-F
+            }
+            else
+            {
+                b -= '0'; // 0-9
+            }
+        }
+        v = ((v << 4) | b);
+    }
+    return v;
+}

c/src/astring.h

@@ -44,6 +44,8 @@
 extern "C" {
 #endif
 
+#include <inttypes.h>
+
 /**
  * Returns the uppercase version of the input character.
  * Note that this is safe to be used only with a-z characters.
@@ -66,6 +68,26 @@ int aztoupper(int c);
  */
 void prepend_char(unsigned char pre, char *string, size_t *size);
 
+/** @brief Returns uint64_t hexadecimal string (16 characters).
+ *
+ * @param n     Number to parse
+ * @param str   String buffer to be returned (it must be sized 17 bytes at least).
+ *
+ * @return      Upon successful return, these function returns the number of characters processed
+ *              (excluding the null byte used to end output to strings).
+ *              If the buffer size is not sufficient, then the return value is the number of characters required for
+ *              buffer string, including the terminating null byte.
+ */
+size_t hex_uint64_t(uint64_t n, char *str);
+
+/** @brief Parses a 16 chars hexadecimal string and returns the code.
+ *
+ * @param s    Hexadecimal string to parse (it must contain 16 hexadecimal characters).
+ *
+ * @return uint64_t unsigned integer number.
+ */
+uint64_t parse_hex_uint64_t(const char *s);
+
 #ifdef __cplusplus
 }
 #endif

c/src/genoref.h

@@ -62,10 +62,10 @@ extern "C" {
 #endif
 
 // Return codes for normalize_variant()
-#define NORM_WRONGPOS     -2 //!< Normalization: Invalid position.
-#define NORM_INVALID      -1 //!< Normalization: Invalid reference.
-#define NORM_OK            0 //!< Normalization: The reference allele perfectly match the genome reference.
-#define NORM_VALID         1 //!< Normalization: The reference allele is inconsistent with the genome reference (i.e. when contains nucleotide letters other than A, C, G and T).
+#define NORM_WRONGPOS   (-2) //!< Normalization: Invalid position.
+#define NORM_INVALID    (-1) //!< Normalization: Invalid reference.
+#define NORM_OK          (0) //!< Normalization: The reference allele perfectly match the genome reference.
+#define NORM_VALID       (1) //!< Normalization: The reference allele is inconsistent with the genome reference (i.e. when contains nucleotide letters other than A, C, G and T).
 #define NORM_SWAP   (1 << 1) //!< Normalization: The alleles have been swapped.
 #define NORM_FLIP   (1 << 2) //!< Normalization: The alleles nucleotides have been flipped (each nucleotide have been replaced with its complement).
 #define NORM_LEXT   (1 << 3) //!< Normalization: Alleles have been left extended.

c/src/nrvk.c

@@ -35,6 +35,7 @@
 #include "nrvk.h"
 
 #define KEYBLKLEN 16 //!< Length in bytes of a binary block containing VARIANTKEY + OFFSET ADDRESS
+#define ADDRBLKPOS 8 //!< Position of the OFFSET ADDRESS in bytes in the binary block
 
 size_t find_ref_alt_by_variantkey(const unsigned char *src, uint64_t last, uint64_t vk, char *ref, size_t *sizeref, char *alt, size_t *sizealt)
 {
@@ -45,7 +46,7 @@ size_t find_ref_alt_by_variantkey(const unsigned char *src, uint64_t last, uint6
     {
         return 0; // not found
     }
-    uint64_t offset = bytes_to_uint64_t(src, get_address(KEYBLKLEN, 8, found));
+    uint64_t offset = bytes_to_uint64_t(src, get_address(KEYBLKLEN, ADDRBLKPOS, found));
     *sizeref = (size_t) bytes_to_uint8_t(src, offset++);
     *sizealt = (size_t) bytes_to_uint8_t(src, offset++);
     memcpy(ref, &src[offset], *sizeref);
@@ -69,6 +70,37 @@ size_t reverse_variantkey(const unsigned char *src, uint64_t last, uint64_t vk,
     return len;
 }
 
+size_t get_variantkey_ref_length(const unsigned char *src, uint64_t last, uint64_t vk)
+{
+    if ((vk & 0x1) == 0) // check last bit for reversible encoding
+    {
+        return (size_t)((vk & 0x0000000078000000) >> 27); // [00000000 00000000 00000000 00000000 01111000 00000000 00000000 00000000]
+    }
+    uint64_t first = 0;
+    uint64_t max = last;
+    uint64_t found = find_first_uint64_t(src, KEYBLKLEN, 0, &first, &max, vk);
+    if (found > last)
+    {
+        return 0; // not found
+    }
+    return (size_t) bytes_to_uint8_t(src, bytes_to_uint64_t(src, get_address(KEYBLKLEN, ADDRBLKPOS, found)));
+}
+
+uint32_t get_variantkey_endpos(const unsigned char *src, uint64_t last, uint64_t vk)
+{
+    return (extract_variantkey_pos(vk) + (uint32_t)get_variantkey_ref_length(src, last, vk));
+}
+
+uint64_t get_variantkey_chrom_startpos(uint64_t vk)
+{
+    return (vk >> VKSHIFT_POS);
+}
+
+uint64_t get_variantkey_chrom_endpos(const unsigned char *src, uint64_t last, uint64_t vk)
+{
+    return (((vk & VKMASK_CHROM) >> VKSHIFT_POS) | (uint64_t)get_variantkey_endpos(src, last, vk));
+}
+
 size_t vknr_bin_to_tsv(const unsigned char *src, uint64_t last, const char *tsvfile)
 {
     FILE * fp;
@@ -77,7 +109,7 @@ size_t vknr_bin_to_tsv(const unsigned char *src, uint64_t last, const char *tsvf
     char ref[ALLELE_MAXSIZE];
     char alt[ALLELE_MAXSIZE];
     uint64_t i;
-    fp = fopen(tsvfile, "w");
+    fp = fopen(tsvfile, "we");
     if (fp == NULL)
     {
         return 0;

c/src/nrvk.h

@@ -102,6 +102,46 @@ size_t find_ref_alt_by_variantkey(const unsigned char *src, uint64_t last, uint6
  */
 size_t reverse_variantkey(const unsigned char *src, uint64_t last, uint64_t vk, variantkey_rev_t *rev);
 
+/**
+ * Retrieve the REF length for the specified VariantKey.
+ *
+ * @param src      Address of the memory mapped input file containing the VariantKey to REF+ALT lookup table (vknr.bin).
+ * @param last     Number of variants in the src file -1.
+ * @param vk       VariantKey.
+ *
+ * @return REF length or 0 if the VariantKey is not reversible and not found.
+ */
+size_t get_variantkey_ref_length(const unsigned char *src, uint64_t last, uint64_t vk);
+
+/**
+ * Get the VariantKey end position (POS + REF length).
+ *
+ * @param src      Address of the memory mapped input file containing the VariantKey to REF+ALT lookup table (vknr.bin).
+ * @param last     Number of variants in the src file -1.
+ * @param vk       VariantKey.
+ *
+ * @return Variant end position (POS + REF length).
+ */
+uint32_t get_variantkey_endpos(const unsigned char *src, uint64_t last, uint64_t vk);
+
+/** @brief Get the CHROM + START POS encoding from VariantKey.
+ *
+ * @param vk VariantKey code.
+ *
+ * @return CHROM + START POS.
+ */
+uint64_t get_variantkey_chrom_startpos(uint64_t vk);
+
+/** @brief Get the CHROM + END POS encoding from VariantKey.
+ *
+ * @param src   Address of the memory mapped input file containing the VariantKey to REF+ALT lookup table (vknr.bin).
+ * @param last  Number of variants in the src file -1.
+ * @param vk    VariantKey code.
+ *
+ * @return CHROM + END POS.
+ */
+uint64_t get_variantkey_chrom_endpos(const unsigned char *src, uint64_t last, uint64_t vk);
+
 /**
  * Convert a vrnr.bin file to a simple TSV.
  * For the reverse operation see the resources/tools/vknr.sh script.